Canonical Allele Identifier: CA9063149
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs758545476
gnomAD v2: 19-2251974-C-A
gnomAD v3: 19-2251975-C-A
gnomAD v4: 19-2251975-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251975C>A , CM000681.2:g.2251975C>A GRCh38
NC_000019.9:g.2251974C>A , CM000681.1:g.2251974C>A GRCh37
NC_000019.8:g.2202974C>A NCBI36
NG_012190.1:g.7862C>A
NG_032853.1:g.9449G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.*18C>A MANE Select ENSP00000221496.2:n.*18C>A
ENST00000221496.4:c.*18C>A ENSP00000221496.2:n.*18C>A
NM_000479.3:c.*18C>A NP_000470.2:n.*18C>A
NM_000479.4:c.*18C>A NP_000470.2:n.*18C>A
NM_000479.5:c.*18C>A MANE Select NP_000470.3:n.*18C>A