Canonical Allele Identifier: CA9063112
Gene: AMH HGNC NCBI

Linked Data

ClinVar Variation Id: 782556
ClinVar RCV Id: RCV000963962
dbSNP Id: rs200031151
ExAC: 19:2251829 C / T
gnomAD v2: 19-2251829-C-T
gnomAD v3: 19-2251830-C-T
gnomAD v4: 19-2251830-C-T
MyVariant Identifiers: chr19:g.2251829C>T (hg19) chr19:g.2251830C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251830C>T , CM000681.2:g.2251830C>T GRCh38
NC_000019.9:g.2251829C>T , CM000681.1:g.2251829C>T GRCh37
NC_000019.8:g.2202829C>T NCBI36
NG_012190.1:g.7717C>T
NG_032853.1:g.9594G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1556C>T MANE Select ENSP00000221496.2:p.Ala519Val
ENST00000221496.4:c.1556C>T ENSP00000221496.2:p.Ala519Val
NM_000479.3:c.1556C>T NP_000470.2:p.Ala519Val
NM_000479.4:c.1556C>T NP_000470.2:p.Ala519Val
NM_000479.5:c.1556C>T MANE Select NP_000470.3:p.Ala519Val
Search 100 bp 5'
Search 100 bp 3'