Canonical Allele Identifier: CA517041332
Gene: AMER1 HGNC NCBI

Linked Data

gnomAD v4: X-64192555-T-C
MyVariant Identifiers: chrX:g.63412435T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192555T>C , CM000685.2:g.64192555T>C GRCh38
NC_000023.10:g.63412435T>C , CM000685.1:g.63412435T>C GRCh37
NC_000023.9:g.63329160T>C NCBI36
NG_021345.1:g.18190A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.732A>G MANE Select ENSP00000364003.4:p.Glu244=
ENST00000330258.3:c.732A>G ENSP00000329117.3:p.Glu244=
ENST00000374869.7:c.732A>G ENSP00000364003.3:p.Glu244=
NM_152424.3:c.732A>G NP_689637.3:p.Glu244=
XM_011530858.1:c.732A>G XP_011529160.1:p.Glu244=
NM_152424.4:c.732A>G MANE Select NP_689637.3:p.Glu244=
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