Canonical Allele Identifier: CA403242754
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs1422463631
gnomAD v2: 19-2251588-C-T
gnomAD v4: 19-2251589-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251589C>T , CM000681.2:g.2251589C>T GRCh38
NC_000019.9:g.2251588C>T , CM000681.1:g.2251588C>T GRCh37
NC_000019.8:g.2202588C>T NCBI36
NG_012190.1:g.7476C>T
NG_032853.1:g.9835G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1315C>T MANE Select ENSP00000221496.2:p.Arg439Cys
ENST00000221496.4:c.1315C>T ENSP00000221496.2:p.Arg439Cys
ENST00000589313.2:n.1668C>T
NM_000479.3:c.1315C>T NP_000470.2:p.Arg439Cys
NM_000479.4:c.1315C>T NP_000470.2:p.Arg439Cys
NM_000479.5:c.1315C>T MANE Select NP_000470.3:p.Arg439Cys