Canonical Allele Identifier: CA505143104
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs1399669932
gnomAD v2: 19-2251955-G-A
gnomAD v4: 19-2251956-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251956G>A , CM000681.2:g.2251956G>A GRCh38
NC_000019.9:g.2251955G>A , CM000681.1:g.2251955G>A GRCh37
NC_000019.8:g.2202955G>A NCBI36
NG_012190.1:g.7843G>A
NG_032853.1:g.9468C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1682G>A MANE Select ENSP00000221496.2:p.Ter561=
ENST00000221496.4:c.1682G>A ENSP00000221496.2:p.Ter561=
NM_000479.3:c.1682G>A NP_000470.2:p.Ter561=
NM_000479.4:c.1682G>A NP_000470.2:p.Ter561=
NM_000479.5:c.1682G>A MANE Select NP_000470.3:p.Ter561=