Canonical Allele Identifier: CA505143729
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs1234069721
gnomAD v2: 19-2251737-C-T
gnomAD v4: 19-2251738-C-T
MyVariant Identifiers: chr19:g.2251737C>T (hg19) chr19:g.2251738C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251738C>T , CM000681.2:g.2251738C>T GRCh38
NC_000019.9:g.2251737C>T , CM000681.1:g.2251737C>T GRCh37
NC_000019.8:g.2202737C>T NCBI36
NG_012190.1:g.7625C>T
NG_032853.1:g.9686G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1464C>T MANE Select ENSP00000221496.2:p.Cys488=
ENST00000221496.4:c.1464C>T ENSP00000221496.2:p.Cys488=
NM_000479.3:c.1464C>T NP_000470.2:p.Cys488=
NM_000479.4:c.1464C>T NP_000470.2:p.Cys488=
NM_000479.5:c.1464C>T MANE Select NP_000470.3:p.Cys488=
Search 100 bp 5'
Search 100 bp 3'