Canonical Allele Identifier: CA412611726
Community Standard Title: NM_139058.3(ARX):c.1109C>G (p.Ala370Gly)
Gene: ARX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.25010270G>C , CM000685.2:g.25010270G>C GRCh38
NC_000023.10:g.25028387G>C , CM000685.1:g.25028387G>C GRCh37
NC_000023.9:g.24938308G>C NCBI36
NG_008281.1:g.10679C>G

Transcript Alleles

HGVS Amino-acid Change
NM_139058.3:c.1109C>G MANE Select NP_620689.1:p.Ala370Gly
ENST00000379044.5:c.1109C>G MANE Select ENSP00000368332.4:p.Ala370Gly
NM_139058.2:c.1109C>G NP_620689.1:p.Ala370Gly
ENST00000379044.4:c.1109C>G ENSP00000368332.4:p.Ala370Gly