Canonical Allele Identifier: CA497380511

Gene: MC1R

Linked Data

• dbSNP Id: rs2045694781
• gnomAD v3: 16-89919612-T-C
• gnomAD v4: 16-89919612-T-C
• MyVariant Identifiers: chr16:g.89986020T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919612T>C , CM000678.2:g.89919612T>C	GRCh38
NC_000016.9:g.89986020T>C , CM000678.1:g.89986020T>C	GRCh37
NC_000016.8:g.88513521T>C	NCBI36
NG_012026.1:g.6734T>C
NG_027810.1:g.2604T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.354T>C MANE Select	ENSP00000451605.1:p.Asn118=
ENST00000639847.1:c.354T>C	ENSP00000492011.1:p.Asn118=
ENST00000555147.1:c.354T>C	ENSP00000451605.1:p.Asn118=
ENST00000555427.1:c.354T>C	ENSP00000451760.1:p.Asn118=
ENST00000556922.1:c.354T>C	ENSP00000451560.1:p.Asn118=
NM_002386.3:c.354T>C	NP_002377.4:p.Asn118=
NM_002386.4:c.354T>C MANE Select	NP_002377.4:p.Asn118=