Canonical Allele Identifier: CA505143803
Gene: AMH HGNC NCBI

Linked Data

gnomAD v4: 19-2251564-G-A
MyVariant Identifiers: chr19:g.2251563G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251564G>A , CM000681.2:g.2251564G>A GRCh38
NC_000019.9:g.2251563G>A , CM000681.1:g.2251563G>A GRCh37
NC_000019.8:g.2202563G>A NCBI36
NG_012190.1:g.7451G>A
NG_032853.1:g.9860C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1290G>A MANE Select ENSP00000221496.2:p.Ala430=
ENST00000221496.4:c.1290G>A ENSP00000221496.2:p.Ala430=
ENST00000589313.2:n.1643G>A
NM_000479.3:c.1290G>A NP_000470.2:p.Ala430=
NM_000479.4:c.1290G>A NP_000470.2:p.Ala430=
NM_000479.5:c.1290G>A MANE Select NP_000470.3:p.Ala430=
Search 100 bp 5'
Search 100 bp 3'