Canonical Allele Identifier: CA497380188
Gene: MC1R HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.89985954C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919546C>A , CM000678.2:g.89919546C>A GRCh38
NC_000016.9:g.89985954C>A , CM000678.1:g.89985954C>A GRCh37
NC_000016.8:g.88513455C>A NCBI36
NG_012026.1:g.6668C>A
NG_027810.1:g.2538C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.288C>A MANE Select ENSP00000451605.1:p.Ala96=
ENST00000639847.1:c.288C>A ENSP00000492011.1:p.Ala96=
ENST00000555147.1:c.288C>A ENSP00000451605.1:p.Ala96=
ENST00000555427.1:c.288C>A ENSP00000451760.1:p.Ala96=
ENST00000556922.1:c.288C>A ENSP00000451560.1:p.Ala96=
NM_002386.3:c.288C>A NP_002377.4:p.Ala96=
NM_002386.4:c.288C>A MANE Select NP_002377.4:p.Ala96=