Canonical Allele Identifier: CA403243703
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs1203476846
gnomAD v3: 19-2251904-A-T
gnomAD v4: 19-2251904-A-T
MyVariant Identifiers: chr19:g.2251903A>T (hg19) chr19:g.2251904A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251904A>T , CM000681.2:g.2251904A>T GRCh38
NC_000019.9:g.2251903A>T , CM000681.1:g.2251903A>T GRCh37
NC_000019.8:g.2202903A>T NCBI36
NG_012190.1:g.7791A>T
NG_032853.1:g.9520T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1630A>T MANE Select ENSP00000221496.2:p.Ile544Phe
ENST00000221496.4:c.1630A>T ENSP00000221496.2:p.Ile544Phe
NM_000479.3:c.1630A>T NP_000470.2:p.Ile544Phe
NM_000479.4:c.1630A>T NP_000470.2:p.Ile544Phe
NM_000479.5:c.1630A>T MANE Select NP_000470.3:p.Ile544Phe
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