Canonical Allele Identifier: CA9063087
Gene: AMH HGNC NCBI

Linked Data

ClinVar Variation Id: 751466
ClinVar RCV Id: RCV000928535
dbSNP Id: rs372782047
ExAC: 19:2251764 C / T
gnomAD v2: 19-2251764-C-T
gnomAD v3: 19-2251765-C-T
gnomAD v4: 19-2251765-C-T
MyVariant Identifiers: chr19:g.2251764C>T (hg19) chr19:g.2251765C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251765C>T , CM000681.2:g.2251765C>T GRCh38
NC_000019.9:g.2251764C>T , CM000681.1:g.2251764C>T GRCh37
NC_000019.8:g.2202764C>T NCBI36
NG_012190.1:g.7652C>T
NG_032853.1:g.9659G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1491C>T MANE Select ENSP00000221496.2:p.Ser497=
ENST00000221496.4:c.1491C>T ENSP00000221496.2:p.Ser497=
NM_000479.3:c.1491C>T NP_000470.2:p.Ser497=
NM_000479.4:c.1491C>T NP_000470.2:p.Ser497=
NM_000479.5:c.1491C>T MANE Select NP_000470.3:p.Ser497=
Search 100 bp 5'
Search 100 bp 3'