Canonical Allele Identifier: CA397459112
Gene: MC1R HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.89985721A>C (hg19) chr16:g.89919313A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919313A>C , CM000678.2:g.89919313A>C GRCh38
NC_000016.9:g.89985721A>C , CM000678.1:g.89985721A>C GRCh37
NC_000016.8:g.88513222A>C NCBI36
NG_012026.1:g.6435A>C
NG_027810.1:g.2305A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.55A>C MANE Select ENSP00000451605.1:p.Thr19Pro
ENST00000639847.1:c.55A>C ENSP00000492011.1:p.Thr19Pro
ENST00000555147.1:c.55A>C ENSP00000451605.1:p.Thr19Pro
ENST00000555427.1:c.55A>C ENSP00000451760.1:p.Thr19Pro
ENST00000556922.1:c.55A>C ENSP00000451560.1:p.Thr19Pro
NM_002386.3:c.55A>C NP_002377.4:p.Thr19Pro
NM_002386.4:c.55A>C MANE Select NP_002377.4:p.Thr19Pro
Search 100 bp 5'
Search 100 bp 3'