Canonical Allele Identifier: CA403242441
Gene: AMH HGNC NCBI

Linked Data

dbSNP Id: rs1421173744
gnomAD v2: 19-2251492-C-A
gnomAD v4: 19-2251493-C-A
MyVariant Identifiers: chr19:g.2251492C>A (hg19) chr19:g.2251493C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2251493C>A , CM000681.2:g.2251493C>A GRCh38
NC_000019.9:g.2251492C>A , CM000681.1:g.2251492C>A GRCh37
NC_000019.8:g.2202492C>A NCBI36
NG_012190.1:g.7380C>A
NG_032853.1:g.9931G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221496.5:c.1219C>A MANE Select ENSP00000221496.2:p.Leu407Met
ENST00000221496.4:c.1219C>A ENSP00000221496.2:p.Leu407Met
ENST00000589313.2:n.1572C>A
NM_000479.3:c.1219C>A NP_000470.2:p.Leu407Met
NM_000479.4:c.1219C>A NP_000470.2:p.Leu407Met
NM_000479.5:c.1219C>A MANE Select NP_000470.3:p.Leu407Met
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