Canonical Allele Identifier: CA397459094

Gene: MC1R

Linked Data

• dbSNP Id: rs746774948
• gnomAD v2: 16-89985716-C-T
• MyVariant Identifiers: chr16:g.89985716C>T (hg19) ; chr16:g.89919308C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919308C>T , CM000678.2:g.89919308C>T	GRCh38
NC_000016.9:g.89985716C>T , CM000678.1:g.89985716C>T	GRCh37
NC_000016.8:g.88513217C>T	NCBI36
NG_012026.1:g.6430C>T
NG_027810.1:g.2300C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.50C>T MANE Select	ENSP00000451605.1:p.Thr17Ile
ENST00000639847.1:c.50C>T	ENSP00000492011.1:p.Thr17Ile
ENST00000555147.1:c.50C>T	ENSP00000451605.1:p.Thr17Ile
ENST00000555427.1:c.50C>T	ENSP00000451760.1:p.Thr17Ile
ENST00000556922.1:c.50C>T	ENSP00000451560.1:p.Thr17Ile
NM_002386.3:c.50C>T	NP_002377.4:p.Thr17Ile
NM_002386.4:c.50C>T MANE Select	NP_002377.4:p.Thr17Ile