Canonical Allele Identifier: CA397460535
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs1310852249
gnomAD v2: 16-89986050-G-C
gnomAD v4: 16-89919642-G-C
MyVariant Identifiers: chr16:g.89986050G>C (hg19) chr16:g.89919642G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919642G>C , CM000678.2:g.89919642G>C GRCh38
NC_000016.9:g.89986050G>C , CM000678.1:g.89986050G>C GRCh37
NC_000016.8:g.88513551G>C NCBI36
NG_012026.1:g.6764G>C
NG_027810.1:g.2634G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.384G>C MANE Select ENSP00000451605.1:p.Met128Ile
ENST00000639847.1:c.384G>C ENSP00000492011.1:p.Met128Ile
ENST00000555147.1:c.384G>C ENSP00000451605.1:p.Met128Ile
ENST00000555427.1:c.384G>C ENSP00000451760.1:p.Met128Ile
ENST00000556922.1:c.384G>C ENSP00000451560.1:p.Met128Ile
NM_002386.3:c.384G>C NP_002377.4:p.Met128Ile
NM_002386.4:c.384G>C MANE Select NP_002377.4:p.Met128Ile
Search 100 bp 5'
Search 100 bp 3'