Canonical Allele Identifier: CA631305933
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs1341813907
gnomAD v2: 19-2251982-C-T
gnomAD v4: 19-2251983-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251983C>T , CM000681.2:g.2251983C>T GRCh38
NC_000019.9:g.2251982C>T , CM000681.1:g.2251982C>T GRCh37
NC_000019.8:g.2202982C>T NCBI36
NG_012190.1:g.7870C>T
NG_032853.1:g.9441G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.*26C>T MANE Select ENSP00000221496.2:n.*26C>T
ENST00000221496.4:c.*26C>T ENSP00000221496.2:n.*26C>T
NM_000479.3:c.*26C>T NP_000470.2:n.*26C>T
NM_000479.4:c.*26C>T NP_000470.2:n.*26C>T
NM_000479.5:c.*26C>T MANE Select NP_000470.3:n.*26C>T