Canonical Allele Identifier: CA2576558517
Gene: AMH HGNC NCBI

Linked Data

gnomAD v4: 19-2251964-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251964C>T , CM000681.2:g.2251964C>T GRCh38
NC_000019.9:g.2251963C>T , CM000681.1:g.2251963C>T GRCh37
NC_000019.8:g.2202963C>T NCBI36
NG_012190.1:g.7851C>T
NG_032853.1:g.9460G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.*7C>T MANE Select ENSP00000221496.2:n.*7C>T
ENST00000221496.4:c.*7C>T ENSP00000221496.2:n.*7C>T
NM_000479.3:c.*7C>T NP_000470.2:n.*7C>T
NM_000479.4:c.*7C>T NP_000470.2:n.*7C>T
NM_000479.5:c.*7C>T MANE Select NP_000470.3:n.*7C>T