Canonical Allele Identifier: CA353559374

Gene: MITF

Linked Data

• MyVariant Identifiers: chr3:g.70014031T>A (hg19) ; chr3:g.69964880T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964880T>A , CM000665.2:g.69964880T>A	GRCh38
NC_000003.11:g.70014031T>A , CM000665.1:g.70014031T>A	GRCh37
NC_000003.10:g.70096721T>A	NCBI36
NG_011631.1:g.230399T>A , LRG_776:g.230399T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000314589.11:c.1147T>A	ENSP00000324443.5:p.Ser383Thr
ENST00000687384.1:c.1144T>A	ENSP00000510225.1:p.Ser382Thr
ENST00000689390.1:n.1369T>A
ENST00000693031.1:c.1120T>A	ENSP00000509845.1:p.Ser374Thr
ENST00000693549.1:c.1114-34T>A	ENSP00000509358.1:n.1114-34T>A
ENST00000314589.10:c.1147T>A	ENSP00000324443.5:p.Ser383Thr
ENST00000352241.9:c.1213T>A MANE Select	ENSP00000295600.8:p.Ser405Thr
ENST00000394351.9:c.892T>A MANE Plus Clinical	ENSP00000377880.3:p.Ser298Thr
ENST00000448226.9:c.1192T>A	ENSP00000391803.3:p.Ser398Thr
ENST00000642352.1:c.1195T>A	ENSP00000494105.1:p.Ser399Thr
ENST00000314557.10:c.874T>A	ENSP00000324246.6:p.Ser292Thr
ENST00000314589.9:c.1147T>A	ENSP00000324443.5:p.Ser383Thr
ENST00000328528.10:c.1192T>A	ENSP00000327867.6:p.Ser398Thr
ENST00000352241.8:c.1195T>A	ENSP00000295600.7:p.Ser399Thr
ENST00000394351.7:c.892T>A	ENSP00000377880.3:p.Ser298Thr
ENST00000448226.6:c.1213T>A	ENSP00000391803.2:p.Ser405Thr
ENST00000472437.5:c.1039T>A	ENSP00000418845.1:p.Ser347Thr
ENST00000478490.5:c.*539T>A	ENSP00000433487.1:n.*539T>A
ENST00000531774.1:c.706T>A	ENSP00000435909.1:p.Ser236Thr
NM_000248.3:c.892T>A , LRG_776t1:c.892T>A	NP_000239.1:p.Ser298Thr
NM_001184967.1:c.1039T>A	NP_001171896.1:p.Ser347Thr
NM_006722.2:c.1192T>A	NP_006713.1:p.Ser398Thr
NM_198158.2:c.874T>A	NP_937801.1:p.Ser292Thr
NM_198159.2:c.1195T>A	NP_937802.1:p.Ser399Thr
NM_198177.2:c.1147T>A	NP_937820.1:p.Ser383Thr
NM_198178.2:c.706T>A	NP_937821.2:p.Ser236Thr
XM_005264754.1:c.1213T>A	XP_005264811.1:p.Ser405Thr
XM_005264755.2:c.1165T>A	XP_005264812.1:p.Ser389Thr
XM_006713164.2:c.1057T>A	XP_006713227.1:p.Ser353Thr
XM_011533722.1:c.1210T>A	XP_011532024.1:p.Ser404Thr
XM_011533723.1:c.1162T>A	XP_011532025.1:p.Ser388Thr
XM_011533724.1:c.1057T>A	XP_011532026.1:p.Ser353Thr
XM_011533725.1:c.1045T>A	XP_011532027.1:p.Ser349Thr
XM_011533726.1:c.1027T>A	XP_011532028.1:p.Ser343Thr
NM_001354604.1:c.1213T>A	NP_001341533.1:p.Ser405Thr
NM_001354605.1:c.1210T>A	NP_001341534.1:p.Ser404Thr
NM_001354606.1:c.1192T>A	NP_001341535.1:p.Ser398Thr
NM_001354607.1:c.1144T>A	NP_001341536.1:p.Ser382Thr
NM_001354608.1:c.1039T>A	NP_001341537.1:p.Ser347Thr
NM_001184967.2:c.1039T>A	NP_001171896.1:p.Ser347Thr
NM_001354604.2:c.1213T>A MANE Select	NP_001341533.1:p.Ser405Thr
NM_001354605.2:c.1210T>A	NP_001341534.1:p.Ser404Thr
NM_001354606.2:c.1192T>A	NP_001341535.1:p.Ser398Thr
NM_001354607.2:c.1144T>A	NP_001341536.1:p.Ser382Thr
NM_001354608.2:c.1039T>A	NP_001341537.1:p.Ser347Thr
NM_198158.3:c.874T>A	NP_937801.1:p.Ser292Thr
NM_198159.3:c.1195T>A	NP_937802.1:p.Ser399Thr
NM_198177.3:c.1147T>A	NP_937820.1:p.Ser383Thr
NM_198178.3:c.706T>A	NP_937821.2:p.Ser236Thr
NM_000248.4:c.892T>A MANE Plus Clinical	NP_000239.1:p.Ser298Thr
NM_006722.3:c.1192T>A	NP_006713.1:p.Ser398Thr