Canonical Allele Identifier: CA880703876
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs1209108985
gnomAD v3: 19-2251972-G-A
gnomAD v4: 19-2251972-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251972G>A , CM000681.2:g.2251972G>A GRCh38
NC_000019.9:g.2251971G>A , CM000681.1:g.2251971G>A GRCh37
NC_000019.8:g.2202971G>A NCBI36
NG_012190.1:g.7859G>A
NG_032853.1:g.9452C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.*15G>A MANE Select ENSP00000221496.2:n.*15G>A
ENST00000221496.4:c.*15G>A ENSP00000221496.2:n.*15G>A
NM_000479.3:c.*15G>A NP_000470.2:n.*15G>A
NM_000479.4:c.*15G>A NP_000470.2:n.*15G>A
NM_000479.5:c.*15G>A MANE Select NP_000470.3:n.*15G>A