Canonical Allele Identifier: CA9063111
Gene: AMH HGNC NCBI

Linked Data

ClinVar Variation Id: 2052789
ClinVar RCV Id: RCV002918909
dbSNP Id: rs144513424
ExAC: 19:2251825 G / A
gnomAD v2: 19-2251825-G-A
gnomAD v3: 19-2251826-G-A
gnomAD v4: 19-2251826-G-A
MyVariant Identifiers: chr19:g.2251825G>A (hg19) chr19:g.2251826G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251826G>A , CM000681.2:g.2251826G>A GRCh38
NC_000019.9:g.2251825G>A , CM000681.1:g.2251825G>A GRCh37
NC_000019.8:g.2202825G>A NCBI36
NG_012190.1:g.7713G>A
NG_032853.1:g.9598C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000221496.5:c.1552G>A MANE Select ENSP00000221496.2:p.Ala518Thr
ENST00000221496.4:c.1552G>A ENSP00000221496.2:p.Ala518Thr
NM_000479.3:c.1552G>A NP_000470.2:p.Ala518Thr
NM_000479.4:c.1552G>A NP_000470.2:p.Ala518Thr
NM_000479.5:c.1552G>A MANE Select NP_000470.3:p.Ala518Thr
Search 100 bp 5'
Search 100 bp 3'