Canonical Allele Identifier: CA329957601
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1942983
ClinVar RCV Id: RCV002647078
dbSNP Id: rs1050642982
gnomAD v2: X-63412433-G-T
gnomAD v4: X-64192553-G-T
MyVariant Identifiers: chrX:g.63412433G>T (hg19) chrX:g.64192553G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192553G>T , CM000685.2:g.64192553G>T GRCh38
NC_000023.10:g.63412433G>T , CM000685.1:g.63412433G>T GRCh37
NC_000023.9:g.63329158G>T NCBI36
NG_021345.1:g.18192C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.734C>A MANE Select ENSP00000364003.4:p.Pro245His
ENST00000330258.3:c.734C>A ENSP00000329117.3:p.Pro245His
ENST00000374869.7:c.734C>A ENSP00000364003.3:p.Pro245His
NM_152424.3:c.734C>A NP_689637.3:p.Pro245His
XM_011530858.1:c.734C>A XP_011529160.1:p.Pro245His
NM_152424.4:c.734C>A MANE Select NP_689637.3:p.Pro245His
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