Canonical Allele Identifier: CA397459163
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs1411445193
gnomAD v2: 16-89985734-A-C
gnomAD v4: 16-89919326-A-C
MyVariant Identifiers: chr16:g.89985734A>C (hg19) chr16:g.89919326A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919326A>C , CM000678.2:g.89919326A>C GRCh38
NC_000016.9:g.89985734A>C , CM000678.1:g.89985734A>C GRCh37
NC_000016.8:g.88513235A>C NCBI36
NG_012026.1:g.6448A>C
NG_027810.1:g.2318A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.68A>C MANE Select ENSP00000451605.1:p.Gln23Pro
ENST00000639847.1:c.68A>C ENSP00000492011.1:p.Gln23Pro
ENST00000555147.1:c.68A>C ENSP00000451605.1:p.Gln23Pro
ENST00000555427.1:c.68A>C ENSP00000451760.1:p.Gln23Pro
ENST00000556922.1:c.68A>C ENSP00000451560.1:p.Gln23Pro
NM_002386.3:c.68A>C NP_002377.4:p.Gln23Pro
NM_002386.4:c.68A>C MANE Select NP_002377.4:p.Gln23Pro
Search 100 bp 5'
Search 100 bp 3'