Canonical Allele Identifier: CA403243856
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs2025056847
gnomAD v4: 19-2251943-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251943T>A , CM000681.2:g.2251943T>A GRCh38
NC_000019.9:g.2251942T>A , CM000681.1:g.2251942T>A GRCh37
NC_000019.8:g.2202942T>A NCBI36
NG_012190.1:g.7830T>A
NG_032853.1:g.9481A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1669T>A MANE Select ENSP00000221496.2:p.Cys557Ser
ENST00000221496.4:c.1669T>A ENSP00000221496.2:p.Cys557Ser
NM_000479.3:c.1669T>A NP_000470.2:p.Cys557Ser
NM_000479.4:c.1669T>A NP_000470.2:p.Cys557Ser
NM_000479.5:c.1669T>A MANE Select NP_000470.3:p.Cys557Ser