Canonical Allele Identifier: CA403242358
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs1414967184
gnomAD v2: 19-2251465-C-G
gnomAD v4: 19-2251466-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251466C>G , CM000681.2:g.2251466C>G GRCh38
NC_000019.9:g.2251465C>G , CM000681.1:g.2251465C>G GRCh37
NC_000019.8:g.2202465C>G NCBI36
NG_012190.1:g.7353C>G
NG_032853.1:g.9958G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1192C>G MANE Select ENSP00000221496.2:p.Pro398Ala
ENST00000221496.4:c.1192C>G ENSP00000221496.2:p.Pro398Ala
ENST00000589313.2:n.1545C>G
NM_000479.3:c.1192C>G NP_000470.2:p.Pro398Ala
NM_000479.4:c.1192C>G NP_000470.2:p.Pro398Ala
NM_000479.5:c.1192C>G MANE Select NP_000470.3:p.Pro398Ala