Canonical Allele Identifier: CA397460817
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs2045696678
gnomAD v3: 16-89919701-A-G
gnomAD v4: 16-89919701-A-G
MyVariant Identifiers: chr16:g.89986109A>G (hg19) chr16:g.89919701A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919701A>G , CM000678.2:g.89919701A>G GRCh38
NC_000016.9:g.89986109A>G , CM000678.1:g.89986109A>G GRCh37
NC_000016.8:g.88513610A>G NCBI36
NG_012026.1:g.6823A>G
NG_027810.1:g.2693A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555147.2:c.443A>G MANE Select ENSP00000451605.1:p.Tyr148Cys
ENST00000639847.1:c.443A>G ENSP00000492011.1:p.Tyr148Cys
ENST00000555147.1:c.443A>G ENSP00000451605.1:p.Tyr148Cys
ENST00000555427.1:c.443A>G ENSP00000451760.1:p.Tyr148Cys
ENST00000556922.1:c.443A>G ENSP00000451560.1:p.Tyr148Cys
NM_002386.3:c.443A>G NP_002377.4:p.Tyr148Cys
NM_002386.4:c.443A>G MANE Select NP_002377.4:p.Tyr148Cys
Search 100 bp 5'
Search 100 bp 3'