Canonical Allele Identifier: CA412613174
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25013552-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25013552G>C , CM000685.2:g.25013552G>C GRCh38
NC_000023.10:g.25031669G>C , CM000685.1:g.25031669G>C GRCh37
NC_000023.9:g.24941590G>C NCBI36
NG_008281.1:g.7397C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379044.5:c.443C>G MANE Select ENSP00000368332.4:p.Ala148Gly
ENST00000379044.4:c.443C>G ENSP00000368332.4:p.Ala148Gly
NM_139058.2:c.443C>G NP_620689.1:p.Ala148Gly
NM_139058.3:c.443C>G MANE Select NP_620689.1:p.Ala148Gly