Canonical Allele Identifier: CA327733042
Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1544361
dbSNP Id: rs936582415
gnomAD v2: X-25031272-A-G
gnomAD v3: X-25013155-A-G
gnomAD v4: X-25013155-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013155A>G , CM000685.2:g.25013155A>G GRCh38
NC_000023.10:g.25031272A>G , CM000685.1:g.25031272A>G GRCh37
NC_000023.9:g.24941193A>G NCBI36
NG_008281.1:g.7794T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.840T>C MANE Select ENSP00000368332.4:p.Ala280=
ENST00000379044.4:c.840T>C ENSP00000368332.4:p.Ala280=
NM_139058.2:c.840T>C NP_620689.1:p.Ala280=
NM_139058.3:c.840T>C MANE Select NP_620689.1:p.Ala280=