Canonical Allele Identifier: CA9063082
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs750010661
gnomAD v2: 19-2251725-G-A
gnomAD v4: 19-2251726-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251726G>A , CM000681.2:g.2251726G>A GRCh38
NC_000019.9:g.2251725G>A , CM000681.1:g.2251725G>A GRCh37
NC_000019.8:g.2202725G>A NCBI36
NG_012190.1:g.7613G>A
NG_032853.1:g.9698C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1452G>A MANE Select ENSP00000221496.2:p.Gln484=
ENST00000221496.4:c.1452G>A ENSP00000221496.2:p.Gln484=
NM_000479.3:c.1452G>A NP_000470.2:p.Gln484=
NM_000479.4:c.1452G>A NP_000470.2:p.Gln484=
NM_000479.5:c.1452G>A MANE Select NP_000470.3:p.Gln484=