Canonical Allele Identifier: CA8255697
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 321437
ClinVar RCV Id: RCV000647344 RCV001824733
dbSNP Id: rs200965363
ExAC: 16:89986318 G / A
gnomAD v2: 16-89986318-G-A
gnomAD v3: 16-89919910-G-A
gnomAD v4: 16-89919910-G-A
MyVariant Identifiers: chr16:g.89986318G>A (hg19) chr16:g.89919910G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919910G>A , CM000678.2:g.89919910G>A GRCh38
NC_000016.9:g.89986318G>A , CM000678.1:g.89986318G>A GRCh37
NC_000016.8:g.88513819G>A NCBI36
NG_012026.1:g.7032G>A
NG_027810.1:g.2902G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.652G>A MANE Select ENSP00000451605.1:p.Ala218Thr
ENST00000639847.1:c.652G>A ENSP00000492011.1:p.Ala218Thr
ENST00000555147.1:c.652G>A ENSP00000451605.1:p.Ala218Thr
ENST00000555427.1:c.652G>A ENSP00000451760.1:p.Ala218Thr
ENST00000556922.1:c.652G>A ENSP00000451560.1:p.Ala218Thr
NM_002386.3:c.652G>A NP_002377.4:p.Ala218Thr
NM_002386.4:c.652G>A MANE Select NP_002377.4:p.Ala218Thr
Search 100 bp 5'
Search 100 bp 3'