Canonical Allele Identifier: CA9063081
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs764585665
ExAC: 19:2251720 T / C
gnomAD v2: 19-2251720-T-C
gnomAD v4: 19-2251721-T-C
MyVariant Identifiers: chr19:g.2251720T>C (hg19) chr19:g.2251721T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251721T>C , CM000681.2:g.2251721T>C GRCh38
NC_000019.9:g.2251720T>C , CM000681.1:g.2251720T>C GRCh37
NC_000019.8:g.2202720T>C NCBI36
NG_012190.1:g.7608T>C
NG_032853.1:g.9703A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1447T>C MANE Select ENSP00000221496.2:p.Tyr483His
ENST00000221496.4:c.1447T>C ENSP00000221496.2:p.Tyr483His
NM_000479.3:c.1447T>C NP_000470.2:p.Tyr483His
NM_000479.4:c.1447T>C NP_000470.2:p.Tyr483His
NM_000479.5:c.1447T>C MANE Select NP_000470.3:p.Tyr483His
Search 100 bp 5'
Search 100 bp 3'