Canonical Allele Identifier: CA253381
Gene: ALX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 5013
ClinVar RCV Id: RCV000005316
dbSNP Id: rs104894191

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44309645G>A , CM000673.2:g.44309645G>A GRCh38
NC_000011.9:g.44331195G>A , CM000673.1:g.44331195G>A GRCh37
NC_000011.8:g.44287771G>A NCBI36
NG_015809.1:g.5522C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000652299.1:c.418C>T MANE Select ENSP00000498217.1:p.Gln140Ter
ENST00000329255.3:c.418C>T ENSP00000332744.3:p.Gln140Ter
NM_021926.3:c.418C>T NP_068745.2:p.Gln140Ter
XM_011520264.1:c.418C>T XP_011518566.1:p.Gln140Ter
XM_011520265.1:c.-105C>T XP_011518567.1:n.-105C>T
NM_021926.4:c.418C>T MANE Select NP_068745.2:p.Gln140Ter