Canonical Allele Identifier: CA402720031
Gene: MC4R HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.58039245T>G (hg19) chr18:g.60372012T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372012T>G , CM000680.2:g.60372012T>G GRCh38
NC_000018.9:g.58039245T>G , CM000680.1:g.58039245T>G GRCh37
NC_000018.8:g.56190225T>G NCBI36
NG_016441.1:g.5757A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.338A>C MANE Select ENSP00000299766.3:p.Asp113Ala
ENST00000299766.4:c.338A>C ENSP00000299766.3:p.Asp113Ala
NM_005912.2:c.338A>C NP_005903.2:p.Asp113Ala
NM_005912.3:c.338A>C MANE Select NP_005903.2:p.Asp113Ala
Search 100 bp 5'
Search 100 bp 3'