Canonical Allele Identifier: CA403242575
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs1327409063
gnomAD v2: 19-2251531-G-T
gnomAD v4: 19-2251532-G-T
MyVariant Identifiers: chr19:g.2251531G>T (hg19) chr19:g.2251532G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251532G>T , CM000681.2:g.2251532G>T GRCh38
NC_000019.9:g.2251531G>T , CM000681.1:g.2251531G>T GRCh37
NC_000019.8:g.2202531G>T NCBI36
NG_012190.1:g.7419G>T
NG_032853.1:g.9892C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1258G>T MANE Select ENSP00000221496.2:p.Asp420Tyr
ENST00000221496.4:c.1258G>T ENSP00000221496.2:p.Asp420Tyr
ENST00000589313.2:n.1611G>T
NM_000479.3:c.1258G>T NP_000470.2:p.Asp420Tyr
NM_000479.4:c.1258G>T NP_000470.2:p.Asp420Tyr
NM_000479.5:c.1258G>T MANE Select NP_000470.3:p.Asp420Tyr
Search 100 bp 5'
Search 100 bp 3'