Canonical Allele Identifier: CA353561838

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70005675A>C (hg19) ; chr3:g.69956524A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956524A>C , CM000665.2:g.69956524A>C	GRCh38
NC_000003.11:g.70005675A>C , CM000665.1:g.70005675A>C	GRCh37
NC_000003.10:g.70088365A>C	NCBI36
NG_011631.1:g.222043A>C , LRG_776:g.222043A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.959A>C	ENSP00000324443.5:p.Asn320Thr
ENST00000687384.1:c.956A>C	ENSP00000510225.1:p.Asn319Thr
ENST00000689390.1:n.1181A>C
ENST00000693031.1:c.932A>C	ENSP00000509845.1:p.Asn311Thr
ENST00000693549.1:c.959A>C	ENSP00000509358.1:p.Asn320Thr
ENST00000314589.10:c.959A>C	ENSP00000324443.5:p.Asn320Thr
ENST00000352241.9:c.1025A>C MANE Select	ENSP00000295600.8:p.Asn342Thr
ENST00000394351.9:c.704A>C MANE Plus Clinical	ENSP00000377880.3:p.Asn235Thr
ENST00000448226.9:c.1004A>C	ENSP00000391803.3:p.Asn335Thr
ENST00000642352.1:c.1007A>C	ENSP00000494105.1:p.Asn336Thr
ENST00000314557.10:c.686A>C	ENSP00000324246.6:p.Asn229Thr
ENST00000314589.9:c.959A>C	ENSP00000324443.5:p.Asn320Thr
ENST00000328528.10:c.1004A>C	ENSP00000327867.6:p.Asn335Thr
ENST00000352241.8:c.1007A>C	ENSP00000295600.7:p.Asn336Thr
ENST00000394351.7:c.704A>C	ENSP00000377880.3:p.Asn235Thr
ENST00000448226.6:c.1025A>C	ENSP00000391803.2:p.Asn342Thr
ENST00000451708.5:c.977A>C	ENSP00000398639.1:p.Asn326Thr
ENST00000472437.5:c.851A>C	ENSP00000418845.1:p.Asn284Thr
ENST00000478490.5:c.*351A>C	ENSP00000433487.1:n.*351A>C
ENST00000531774.1:c.518A>C	ENSP00000435909.1:p.Asn173Thr
NM_000248.3:c.704A>C , LRG_776t1:c.704A>C	NP_000239.1:p.Asn235Thr
NM_001184967.1:c.851A>C	NP_001171896.1:p.Asn284Thr
NM_006722.2:c.1004A>C	NP_006713.1:p.Asn335Thr
NM_198158.2:c.686A>C	NP_937801.1:p.Asn229Thr
NM_198159.2:c.1007A>C	NP_937802.1:p.Asn336Thr
NM_198177.2:c.959A>C	NP_937820.1:p.Asn320Thr
NM_198178.2:c.518A>C	NP_937821.2:p.Asn173Thr
XM_005264754.1:c.1025A>C	XP_005264811.1:p.Asn342Thr
XM_005264755.2:c.977A>C	XP_005264812.1:p.Asn326Thr
XM_006713164.2:c.869A>C	XP_006713227.1:p.Asn290Thr
XM_011533722.1:c.1022A>C	XP_011532024.1:p.Asn341Thr
XM_011533723.1:c.974A>C	XP_011532025.1:p.Asn325Thr
XM_011533724.1:c.869A>C	XP_011532026.1:p.Asn290Thr
XM_011533725.1:c.857A>C	XP_011532027.1:p.Asn286Thr
XM_011533726.1:c.839A>C	XP_011532028.1:p.Asn280Thr
NM_001354604.1:c.1025A>C	NP_001341533.1:p.Asn342Thr
NM_001354605.1:c.1022A>C	NP_001341534.1:p.Asn341Thr
NM_001354606.1:c.1004A>C	NP_001341535.1:p.Asn335Thr
NM_001354607.1:c.956A>C	NP_001341536.1:p.Asn319Thr
NM_001354608.1:c.851A>C	NP_001341537.1:p.Asn284Thr
NM_001184967.2:c.851A>C	NP_001171896.1:p.Asn284Thr
NM_001354604.2:c.1025A>C MANE Select	NP_001341533.1:p.Asn342Thr
NM_001354605.2:c.1022A>C	NP_001341534.1:p.Asn341Thr
NM_001354606.2:c.1004A>C	NP_001341535.1:p.Asn335Thr
NM_001354607.2:c.956A>C	NP_001341536.1:p.Asn319Thr
NM_001354608.2:c.851A>C	NP_001341537.1:p.Asn284Thr
NM_198158.3:c.686A>C	NP_937801.1:p.Asn229Thr
NM_198159.3:c.1007A>C	NP_937802.1:p.Asn336Thr
NM_198177.3:c.959A>C	NP_937820.1:p.Asn320Thr
NM_198178.3:c.518A>C	NP_937821.2:p.Asn173Thr
NM_000248.4:c.704A>C MANE Plus Clinical	NP_000239.1:p.Asn235Thr
NM_006722.3:c.1004A>C	NP_006713.1:p.Asn335Thr