Canonical Allele Identifier: CA2573152826
Gene: MC1R HGNC NCBI

Linked Data

ClinVar Variation Id: 1416844
ClinVar RCV Id: RCV001935919
dbSNP Id: rs2144392750
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919922_89919923delinsTA , CM000678.2:g.89919922_89919923delinsTA GRCh38
NC_000016.9:g.89986330_89986331delinsTA , CM000678.1:g.89986330_89986331delinsTA GRCh37
NC_000016.8:g.88513831_88513832delinsTA NCBI36
NG_012026.1:g.7044_7045delinsTA
NG_027810.1:g.2914_2915delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.664_665delinsTA MANE Select ENSP00000451605.1:p.Ala222Tyr
ENST00000639847.1:c.664_665delinsTA ENSP00000492011.1:p.Ala222Tyr
ENST00000555147.1:c.664_665delinsTA ENSP00000451605.1:p.Ala222Tyr
ENST00000555427.1:c.664_665delinsTA ENSP00000451760.1:p.Ala222Tyr
ENST00000556922.1:c.664_665delinsTA ENSP00000451560.1:p.Ala222Tyr
NM_002386.3:c.664_665delinsTA NP_002377.4:p.Ala222Tyr
NM_002386.4:c.664_665delinsTA MANE Select NP_002377.4:p.Ala222Tyr
Search 100 bp 5'
Search 100 bp 3'