Canonical Allele Identifier: CA403243768
Gene: AMH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251920T>G , CM000681.2:g.2251920T>G GRCh38
NC_000019.9:g.2251919T>G , CM000681.1:g.2251919T>G GRCh37
NC_000019.8:g.2202919T>G NCBI36
NG_012190.1:g.7807T>G
NG_032853.1:g.9504A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1646T>G MANE Select ENSP00000221496.2:p.Val549Gly
ENST00000221496.4:c.1646T>G ENSP00000221496.2:p.Val549Gly
NM_000479.3:c.1646T>G NP_000470.2:p.Val549Gly
NM_000479.4:c.1646T>G NP_000470.2:p.Val549Gly
NM_000479.5:c.1646T>G MANE Select NP_000470.3:p.Val549Gly