Canonical Allele Identifier: CA403243782
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs2025056329
gnomAD v3: 19-2251925-A-T
gnomAD v4: 19-2251925-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251925A>T , CM000681.2:g.2251925A>T GRCh38
NC_000019.9:g.2251924A>T , CM000681.1:g.2251924A>T GRCh37
NC_000019.8:g.2202924A>T NCBI36
NG_012190.1:g.7812A>T
NG_032853.1:g.9499T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1651A>T MANE Select ENSP00000221496.2:p.Asn551Tyr
ENST00000221496.4:c.1651A>T ENSP00000221496.2:p.Asn551Tyr
NM_000479.3:c.1651A>T NP_000470.2:p.Asn551Tyr
NM_000479.4:c.1651A>T NP_000470.2:p.Asn551Tyr
NM_000479.5:c.1651A>T MANE Select NP_000470.3:p.Asn551Tyr