Canonical Allele Identifier: CA403243746
Gene: AMH HGNC NCBI

Linked Data

gnomAD v4: 19-2251916-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251916C>A , CM000681.2:g.2251916C>A GRCh38
NC_000019.9:g.2251915C>A , CM000681.1:g.2251915C>A GRCh37
NC_000019.8:g.2202915C>A NCBI36
NG_012190.1:g.7803C>A
NG_032853.1:g.9508G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1642C>A MANE Select ENSP00000221496.2:p.His548Asn
ENST00000221496.4:c.1642C>A ENSP00000221496.2:p.His548Asn
NM_000479.3:c.1642C>A NP_000470.2:p.His548Asn
NM_000479.4:c.1642C>A NP_000470.2:p.His548Asn
NM_000479.5:c.1642C>A MANE Select NP_000470.3:p.His548Asn