Canonical Allele Identifier: CA403242344
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs2025041812
gnomAD v3: 19-2251461-T-G
gnomAD v4: 19-2251461-T-G
MyVariant Identifiers: chr19:g.2251460T>G (hg19) chr19:g.2251461T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251461T>G , CM000681.2:g.2251461T>G GRCh38
NC_000019.9:g.2251460T>G , CM000681.1:g.2251460T>G GRCh37
NC_000019.8:g.2202460T>G NCBI36
NG_012190.1:g.7348T>G
NG_032853.1:g.9963A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1187T>G MANE Select ENSP00000221496.2:p.Leu396Arg
ENST00000221496.4:c.1187T>G ENSP00000221496.2:p.Leu396Arg
ENST00000589313.2:n.1540T>G
NM_000479.3:c.1187T>G NP_000470.2:p.Leu396Arg
NM_000479.4:c.1187T>G NP_000470.2:p.Leu396Arg
NM_000479.5:c.1187T>G MANE Select NP_000470.3:p.Leu396Arg
Search 100 bp 5'
Search 100 bp 3'