Canonical Allele Identifier: CA397460661
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 2760591
ClinVar RCV Id: RCV003515262
gnomAD v4: 16-89919673-G-T
MyVariant Identifiers: chr16:g.89986081G>T (hg19) chr16:g.89919673G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919673G>T , CM000678.2:g.89919673G>T GRCh38
NC_000016.9:g.89986081G>T , CM000678.1:g.89986081G>T GRCh37
NC_000016.8:g.88513582G>T NCBI36
NG_012026.1:g.6795G>T
NG_027810.1:g.2665G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.415G>T MANE Select ENSP00000451605.1:p.Ala139Ser
ENST00000639847.1:c.415G>T ENSP00000492011.1:p.Ala139Ser
ENST00000555147.1:c.415G>T ENSP00000451605.1:p.Ala139Ser
ENST00000555427.1:c.415G>T ENSP00000451760.1:p.Ala139Ser
ENST00000556922.1:c.415G>T ENSP00000451560.1:p.Ala139Ser
NM_002386.3:c.415G>T NP_002377.4:p.Ala139Ser
NM_002386.4:c.415G>T MANE Select NP_002377.4:p.Ala139Ser
Search 100 bp 5'
Search 100 bp 3'