Canonical Allele Identifier: CA497380627
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs2045695624
gnomAD v3: 16-89919663-G-A
gnomAD v4: 16-89919663-G-A
MyVariant Identifiers: chr16:g.89986071G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919663G>A , CM000678.2:g.89919663G>A GRCh38
NC_000016.9:g.89986071G>A , CM000678.1:g.89986071G>A GRCh37
NC_000016.8:g.88513572G>A NCBI36
NG_012026.1:g.6785G>A
NG_027810.1:g.2655G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.405G>A MANE Select ENSP00000451605.1:p.Leu135=
ENST00000639847.1:c.405G>A ENSP00000492011.1:p.Leu135=
ENST00000555147.1:c.405G>A ENSP00000451605.1:p.Leu135=
ENST00000555427.1:c.405G>A ENSP00000451760.1:p.Leu135=
ENST00000556922.1:c.405G>A ENSP00000451560.1:p.Leu135=
NM_002386.3:c.405G>A NP_002377.4:p.Leu135=
NM_002386.4:c.405G>A MANE Select NP_002377.4:p.Leu135=
Search 100 bp 5'
Search 100 bp 3'