Canonical Allele Identifier: CA402719435
Gene: MC4R HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.58038970G>T (hg19) chr18:g.60371737G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371737G>T , CM000680.2:g.60371737G>T GRCh38
NC_000018.9:g.58038970G>T , CM000680.1:g.58038970G>T GRCh37
NC_000018.8:g.56189950G>T NCBI36
NG_016441.1:g.6032C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.613C>A MANE Select ENSP00000299766.3:p.Leu205Met
ENST00000299766.4:c.613C>A ENSP00000299766.3:p.Leu205Met
NM_005912.2:c.613C>A NP_005903.2:p.Leu205Met
NM_005912.3:c.613C>A MANE Select NP_005903.2:p.Leu205Met
Search 100 bp 5'
Search 100 bp 3'