Canonical Allele Identifier: CA412611966
Gene: ARX HGNC NCBI

Linked Data

gnomAD v4: X-25012986-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25012986T>C , CM000685.2:g.25012986T>C GRCh38
NC_000023.10:g.25031103T>C , CM000685.1:g.25031103T>C GRCh37
NC_000023.9:g.24941024T>C NCBI36
NG_008281.1:g.7963A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379044.5:c.1009A>G MANE Select ENSP00000368332.4:p.Ser337Gly
ENST00000379044.4:c.1009A>G ENSP00000368332.4:p.Ser337Gly
NM_139058.2:c.1009A>G NP_620689.1:p.Ser337Gly
NM_139058.3:c.1009A>G MANE Select NP_620689.1:p.Ser337Gly