Canonical Allele Identifier: CA2583853241
Gene: AMH HGNC NCBI

Linked Data

gnomAD v4: 19-2251992-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251992C>A , CM000681.2:g.2251992C>A GRCh38
NC_000019.9:g.2251991C>A , CM000681.1:g.2251991C>A GRCh37
NC_000019.8:g.2202991C>A NCBI36
NG_012190.1:g.7879C>A
NG_032853.1:g.9432G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.*35C>A MANE Select ENSP00000221496.2:n.*35C>A
ENST00000221496.4:c.*35C>A ENSP00000221496.2:n.*35C>A
NM_000479.3:c.*35C>A NP_000470.2:n.*35C>A
NM_000479.4:c.*35C>A NP_000470.2:n.*35C>A
NM_000479.5:c.*35C>A MANE Select NP_000470.3:n.*35C>A