Canonical Allele Identifier: CA403242297
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs2025041604
gnomAD v3: 19-2251449-G-A
gnomAD v4: 19-2251449-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251449G>A , CM000681.2:g.2251449G>A GRCh38
NC_000019.9:g.2251448G>A , CM000681.1:g.2251448G>A GRCh37
NC_000019.8:g.2202448G>A NCBI36
NG_012190.1:g.7336G>A
NG_032853.1:g.9975C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1175G>A MANE Select ENSP00000221496.2:p.Ser392Asn
ENST00000221496.4:c.1175G>A ENSP00000221496.2:p.Ser392Asn
ENST00000589313.2:n.1528G>A
NM_000479.3:c.1175G>A NP_000470.2:p.Ser392Asn
NM_000479.4:c.1175G>A NP_000470.2:p.Ser392Asn
NM_000479.5:c.1175G>A MANE Select NP_000470.3:p.Ser392Asn