Canonical Allele Identifier: CA403242177
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs2025040743
gnomAD v4: 19-2251407-G-A
MyVariant Identifiers: chr19:g.2251406G>A (hg19) chr19:g.2251407G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251407G>A , CM000681.2:g.2251407G>A GRCh38
NC_000019.9:g.2251406G>A , CM000681.1:g.2251406G>A GRCh37
NC_000019.8:g.2202406G>A NCBI36
NG_012190.1:g.7294G>A
NG_032853.1:g.10017C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1133G>A MANE Select ENSP00000221496.2:p.Arg378His
ENST00000221496.4:c.1133G>A ENSP00000221496.2:p.Arg378His
ENST00000589313.2:n.1486G>A
NM_000479.3:c.1133G>A NP_000470.2:p.Arg378His
NM_000479.4:c.1133G>A NP_000470.2:p.Arg378His
NM_000479.5:c.1133G>A MANE Select NP_000470.3:p.Arg378His
Search 100 bp 5'
Search 100 bp 3'