Canonical Allele Identifier: CA304214012
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs572009332
gnomAD v3: 19-2251453-C-G
gnomAD v4: 19-2251453-C-G
MyVariant Identifiers: chr19:g.2251452C>G (hg19) chr19:g.2251453C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251453C>G , CM000681.2:g.2251453C>G GRCh38
NC_000019.9:g.2251452C>G , CM000681.1:g.2251452C>G GRCh37
NC_000019.8:g.2202452C>G NCBI36
NG_012190.1:g.7340C>G
NG_032853.1:g.9971G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1179C>G MANE Select ENSP00000221496.2:p.Leu393=
ENST00000221496.4:c.1179C>G ENSP00000221496.2:p.Leu393=
ENST00000589313.2:n.1532C>G
NM_000479.3:c.1179C>G NP_000470.2:p.Leu393=
NM_000479.4:c.1179C>G NP_000470.2:p.Leu393=
NM_000479.5:c.1179C>G MANE Select NP_000470.3:p.Leu393=
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