Canonical Allele Identifier: CA412612771
Gene: ARX HGNC NCBI

Linked Data

dbSNP Id: rs1410273107
gnomAD v2: X-25031481-G-C
gnomAD v4: X-25013364-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013364G>C , CM000685.2:g.25013364G>C GRCh38
NC_000023.10:g.25031481G>C , CM000685.1:g.25031481G>C GRCh37
NC_000023.9:g.24941402G>C NCBI36
NG_008281.1:g.7585C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.631C>G MANE Select ENSP00000368332.4:p.Pro211Ala
ENST00000379044.4:c.631C>G ENSP00000368332.4:p.Pro211Ala
NM_139058.2:c.631C>G NP_620689.1:p.Pro211Ala
NM_139058.3:c.631C>G MANE Select NP_620689.1:p.Pro211Ala