Canonical Allele Identifier: CA517040912
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs1353677522
gnomAD v3: X-64192318-A-G
gnomAD v4: X-64192318-A-G
MyVariant Identifiers: chrX:g.63412198A>G (hg19) chrX:g.64192318A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192318A>G , CM000685.2:g.64192318A>G GRCh38
NC_000023.10:g.63412198A>G , CM000685.1:g.63412198A>G GRCh37
NC_000023.9:g.63328923A>G NCBI36
NG_021345.1:g.18427T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.969T>C MANE Select ENSP00000364003.4:p.Asp323=
ENST00000330258.3:c.969T>C ENSP00000329117.3:p.Asp323=
ENST00000374869.7:c.969T>C ENSP00000364003.3:p.Asp323=
NM_152424.3:c.969T>C NP_689637.3:p.Asp323=
XM_011530858.1:c.969T>C XP_011529160.1:p.Asp323=
NM_152424.4:c.969T>C MANE Select NP_689637.3:p.Asp323=
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