Canonical Allele Identifier: CA353561712

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70005618G>C (hg19) ; chr3:g.69956467G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69956467G>C , CM000665.2:g.69956467G>C	GRCh38
NC_000003.11:g.70005618G>C , CM000665.1:g.70005618G>C	GRCh37
NC_000003.10:g.70088308G>C	NCBI36
NG_011631.1:g.221986G>C , LRG_776:g.221986G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000314589.11:c.902G>C	ENSP00000324443.5:p.Arg301Thr
ENST00000687384.1:c.899G>C	ENSP00000510225.1:p.Arg300Thr
ENST00000689390.1:n.1124G>C
ENST00000693031.1:c.875G>C	ENSP00000509845.1:p.Arg292Thr
ENST00000693549.1:c.902G>C	ENSP00000509358.1:p.Arg301Thr
ENST00000314589.10:c.902G>C	ENSP00000324443.5:p.Arg301Thr
ENST00000352241.9:c.968G>C MANE Select	ENSP00000295600.8:p.Arg323Thr
ENST00000394351.9:c.647G>C MANE Plus Clinical	ENSP00000377880.3:p.Arg216Thr
ENST00000448226.9:c.947G>C	ENSP00000391803.3:p.Arg316Thr
ENST00000642352.1:c.950G>C	ENSP00000494105.1:p.Arg317Thr
ENST00000314557.10:c.629G>C	ENSP00000324246.6:p.Arg210Thr
ENST00000314589.9:c.902G>C	ENSP00000324443.5:p.Arg301Thr
ENST00000328528.10:c.947G>C	ENSP00000327867.6:p.Arg316Thr
ENST00000352241.8:c.950G>C	ENSP00000295600.7:p.Arg317Thr
ENST00000394351.7:c.647G>C	ENSP00000377880.3:p.Arg216Thr
ENST00000448226.6:c.968G>C	ENSP00000391803.2:p.Arg323Thr
ENST00000451708.5:c.920G>C	ENSP00000398639.1:p.Arg307Thr
ENST00000472437.5:c.794G>C	ENSP00000418845.1:p.Arg265Thr
ENST00000478490.5:c.*294G>C	ENSP00000433487.1:n.*294G>C
ENST00000531774.1:c.461G>C	ENSP00000435909.1:p.Arg154Thr
NM_000248.3:c.647G>C , LRG_776t1:c.647G>C	NP_000239.1:p.Arg216Thr
NM_001184967.1:c.794G>C	NP_001171896.1:p.Arg265Thr
NM_006722.2:c.947G>C	NP_006713.1:p.Arg316Thr
NM_198158.2:c.629G>C	NP_937801.1:p.Arg210Thr
NM_198159.2:c.950G>C	NP_937802.1:p.Arg317Thr
NM_198177.2:c.902G>C	NP_937820.1:p.Arg301Thr
NM_198178.2:c.461G>C	NP_937821.2:p.Arg154Thr
XM_005264754.1:c.968G>C	XP_005264811.1:p.Arg323Thr
XM_005264755.2:c.920G>C	XP_005264812.1:p.Arg307Thr
XM_006713164.2:c.812G>C	XP_006713227.1:p.Arg271Thr
XM_011533722.1:c.965G>C	XP_011532024.1:p.Arg322Thr
XM_011533723.1:c.917G>C	XP_011532025.1:p.Arg306Thr
XM_011533724.1:c.812G>C	XP_011532026.1:p.Arg271Thr
XM_011533725.1:c.800G>C	XP_011532027.1:p.Arg267Thr
XM_011533726.1:c.782G>C	XP_011532028.1:p.Arg261Thr
NM_001354604.1:c.968G>C	NP_001341533.1:p.Arg323Thr
NM_001354605.1:c.965G>C	NP_001341534.1:p.Arg322Thr
NM_001354606.1:c.947G>C	NP_001341535.1:p.Arg316Thr
NM_001354607.1:c.899G>C	NP_001341536.1:p.Arg300Thr
NM_001354608.1:c.794G>C	NP_001341537.1:p.Arg265Thr
NM_001184967.2:c.794G>C	NP_001171896.1:p.Arg265Thr
NM_001354604.2:c.968G>C MANE Select	NP_001341533.1:p.Arg323Thr
NM_001354605.2:c.965G>C	NP_001341534.1:p.Arg322Thr
NM_001354606.2:c.947G>C	NP_001341535.1:p.Arg316Thr
NM_001354607.2:c.899G>C	NP_001341536.1:p.Arg300Thr
NM_001354608.2:c.794G>C	NP_001341537.1:p.Arg265Thr
NM_198158.3:c.629G>C	NP_937801.1:p.Arg210Thr
NM_198159.3:c.950G>C	NP_937802.1:p.Arg317Thr
NM_198177.3:c.902G>C	NP_937820.1:p.Arg301Thr
NM_198178.3:c.461G>C	NP_937821.2:p.Arg154Thr
NM_000248.4:c.647G>C MANE Plus Clinical	NP_000239.1:p.Arg216Thr
NM_006722.3:c.947G>C	NP_006713.1:p.Arg316Thr