Canonical Allele Identifier: CA403243413
Gene: AMH HGNC NCBI

Linked Data

gnomAD v4: 19-2251811-A-C
MyVariant Identifiers: chr19:g.2251810A>C (hg19) chr19:g.2251811A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251811A>C , CM000681.2:g.2251811A>C GRCh38
NC_000019.9:g.2251810A>C , CM000681.1:g.2251810A>C GRCh37
NC_000019.8:g.2202810A>C NCBI36
NG_012190.1:g.7698A>C
NG_032853.1:g.9613T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1537A>C MANE Select ENSP00000221496.2:p.Met513Leu
ENST00000221496.4:c.1537A>C ENSP00000221496.2:p.Met513Leu
NM_000479.3:c.1537A>C NP_000470.2:p.Met513Leu
NM_000479.4:c.1537A>C NP_000470.2:p.Met513Leu
NM_000479.5:c.1537A>C MANE Select NP_000470.3:p.Met513Leu
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