Canonical Allele Identifier: CA403242028
Gene: AMH HGNC NCBI

Linked Data

gnomAD v4: 19-2251331-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251331A>G , CM000681.2:g.2251331A>G GRCh38
NC_000019.9:g.2251330A>G , CM000681.1:g.2251330A>G GRCh37
NC_000019.8:g.2202330A>G NCBI36
NG_012190.1:g.7218A>G
NG_032853.1:g.10093T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1057A>G MANE Select ENSP00000221496.2:p.Thr353Ala
ENST00000221496.4:c.1057A>G ENSP00000221496.2:p.Thr353Ala
ENST00000589313.2:n.1410A>G
NM_000479.3:c.1057A>G NP_000470.2:p.Thr353Ala
NM_000479.4:c.1057A>G NP_000470.2:p.Thr353Ala
NM_000479.5:c.1057A>G MANE Select NP_000470.3:p.Thr353Ala