Canonical Allele Identifier: CA10432375
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2852921
ClinVar RCV Id: RCV003695811
dbSNP Id: rs772039801
ExAC: X:63411969 C / T
gnomAD v2: X-63411969-C-T
gnomAD v4: X-64192089-C-T
MyVariant Identifiers: chrX:g.63411969C>T (hg19) chrX:g.64192089C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192089C>T , CM000685.2:g.64192089C>T GRCh38
NC_000023.10:g.63411969C>T , CM000685.1:g.63411969C>T GRCh37
NC_000023.9:g.63328694C>T NCBI36
NG_021345.1:g.18656G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1198G>A MANE Select ENSP00000364003.4:p.Glu400Lys
ENST00000330258.3:c.1198G>A ENSP00000329117.3:p.Glu400Lys
ENST00000374869.7:c.1198G>A ENSP00000364003.3:p.Glu400Lys
NM_152424.3:c.1198G>A NP_689637.3:p.Glu400Lys
XM_011530858.1:c.1198G>A XP_011529160.1:p.Glu400Lys
NM_152424.4:c.1198G>A MANE Select NP_689637.3:p.Glu400Lys
Search 100 bp 5'
Search 100 bp 3'