Canonical Allele Identifier: CA403243908
Gene: AMH HGNC NCBI

Linked Data

ClinVar Variation Id: 3065466
ClinVar RCV Id: RCV003990543

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251957A>T , CM000681.2:g.2251957A>T GRCh38
NC_000019.9:g.2251956A>T , CM000681.1:g.2251956A>T GRCh37
NC_000019.8:g.2202956A>T NCBI36
NG_012190.1:g.7844A>T
NG_032853.1:g.9467T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1683A>T MANE Select ENSP00000221496.2:p.Ter561Cys
ENST00000221496.4:c.1683A>T ENSP00000221496.2:p.Ter561Cys
NM_000479.3:c.1683A>T NP_000470.2:p.Ter561Cys
NM_000479.4:c.1683A>T NP_000470.2:p.Ter561Cys
NM_000479.5:c.1683A>T MANE Select NP_000470.3:p.Ter561Cys