Canonical Allele Identifier: CA725757272
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs1462120743
gnomAD v3: 16-89915952-T-C
gnomAD v4: 16-89915952-T-C
MyVariant Identifiers: chr16:g.89982360T>C (hg19) chr16:g.89915952T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89915952T>C , CM000678.2:g.89915952T>C GRCh38
NC_000016.9:g.89982360T>C , CM000678.1:g.89982360T>C GRCh37
NC_000016.8:g.88509861T>C NCBI36
NG_012026.1:g.3074T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000639847.1:c.-581+812T>C ENSP00000492011.1:n.-581+812T>C
ENST00000555427.1:c.-581+812T>C ENSP00000451760.1:n.-581+812T>C
XR_933899.1:n.1969T>C
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