Canonical Allele Identifier: CA10432432
Gene: AMER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2166956
dbSNP Id: rs768029529
gnomAD v2: X-63412422-C-T
gnomAD v3: X-64192542-C-T
gnomAD v4: X-64192542-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192542C>T , CM000685.2:g.64192542C>T GRCh38
NC_000023.10:g.63412422C>T , CM000685.1:g.63412422C>T GRCh37
NC_000023.9:g.63329147C>T NCBI36
NG_021345.1:g.18203G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.745G>A MANE Select ENSP00000364003.4:p.Ala249Thr
ENST00000330258.3:c.745G>A ENSP00000329117.3:p.Ala249Thr
ENST00000374869.7:c.745G>A ENSP00000364003.3:p.Ala249Thr
NM_152424.3:c.745G>A NP_689637.3:p.Ala249Thr
XM_011530858.1:c.745G>A XP_011529160.1:p.Ala249Thr
NM_152424.4:c.745G>A MANE Select NP_689637.3:p.Ala249Thr