Canonical Allele Identifier: CA403243858
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs1439022615
gnomAD v2: 19-2251943-G-A
gnomAD v4: 19-2251944-G-A
MyVariant Identifiers: chr19:g.2251943G>A (hg19) chr19:g.2251944G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251944G>A , CM000681.2:g.2251944G>A GRCh38
NC_000019.9:g.2251943G>A , CM000681.1:g.2251943G>A GRCh37
NC_000019.8:g.2202943G>A NCBI36
NG_012190.1:g.7831G>A
NG_032853.1:g.9480C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1670G>A MANE Select ENSP00000221496.2:p.Cys557Tyr
ENST00000221496.4:c.1670G>A ENSP00000221496.2:p.Cys557Tyr
NM_000479.3:c.1670G>A NP_000470.2:p.Cys557Tyr
NM_000479.4:c.1670G>A NP_000470.2:p.Cys557Tyr
NM_000479.5:c.1670G>A MANE Select NP_000470.3:p.Cys557Tyr
Search 100 bp 5'
Search 100 bp 3'