Canonical Allele Identifier: CA401996163
Gene: MC2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885506T>G , CM000680.2:g.13885506T>G GRCh38
NC_000018.9:g.13885505T>G , CM000680.1:g.13885505T>G GRCh37
NC_000018.8:g.13875505T>G NCBI36
NG_011819.1:g.35031A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.13A>C MANE Select ENSP00000333821.2:p.Ile5Leu
ENST00000327606.3:c.13A>C ENSP00000333821.2:p.Ile5Leu
ENST00000399821.2:c.13A>C ENSP00000382718.2:p.Ile5Leu
NM_000529.2:c.13A>C MANE Select NP_000520.1:p.Ile5Leu
NM_001291911.1:c.13A>C NP_001278840.1:p.Ile5Leu
XM_017025781.1:c.13A>C XP_016881270.1:p.Ile5Leu