Canonical Allele Identifier: CA505143011
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs2025053285
MyVariant Identifiers: chr19:g.2251827C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251828C>G , CM000681.2:g.2251828C>G GRCh38
NC_000019.9:g.2251827C>G , CM000681.1:g.2251827C>G GRCh37
NC_000019.8:g.2202827C>G NCBI36
NG_012190.1:g.7715C>G
NG_032853.1:g.9596G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1554C>G MANE Select ENSP00000221496.2:p.Ala518=
ENST00000221496.4:c.1554C>G ENSP00000221496.2:p.Ala518=
NM_000479.3:c.1554C>G NP_000470.2:p.Ala518=
NM_000479.4:c.1554C>G NP_000470.2:p.Ala518=
NM_000479.5:c.1554C>G MANE Select NP_000470.3:p.Ala518=
Search 100 bp 5'
Search 100 bp 3'