Canonical Allele Identifier: CA8255546
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 697005
ClinVar RCV Id: RCV001701328
dbSNP Id: rs34158934
ExAC: 16:89985950 C / T
gnomAD v2: 16-89985950-C-T
gnomAD v3: 16-89919542-C-T
gnomAD v4: 16-89919542-C-T
MyVariant Identifiers: chr16:g.89985950C>T (hg19) chr16:g.89919542C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919542C>T , CM000678.2:g.89919542C>T GRCh38
NC_000016.9:g.89985950C>T , CM000678.1:g.89985950C>T GRCh37
NC_000016.8:g.88513451C>T NCBI36
NG_012026.1:g.6664C>T
NG_027810.1:g.2534C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.284C>T MANE Select ENSP00000451605.1:p.Thr95Met
ENST00000639847.1:c.284C>T ENSP00000492011.1:p.Thr95Met
ENST00000555147.1:c.284C>T ENSP00000451605.1:p.Thr95Met
ENST00000555427.1:c.284C>T ENSP00000451760.1:p.Thr95Met
ENST00000556922.1:c.284C>T ENSP00000451560.1:p.Thr95Met
NM_002386.3:c.284C>T NP_002377.4:p.Thr95Met
NM_002386.4:c.284C>T MANE Select NP_002377.4:p.Thr95Met
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Search 100 bp 3'