Canonical Allele Identifier: CA380182207
Gene: ALX4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.44296935A>T (hg19) chr11:g.44275385A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44275385A>T , CM000673.2:g.44275385A>T GRCh38
NC_000011.9:g.44296935A>T , CM000673.1:g.44296935A>T GRCh37
NC_000011.8:g.44253511A>T NCBI36
NG_015809.1:g.39782T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000652299.1:c.740T>A MANE Select ENSP00000498217.1:p.Leu247Gln
ENST00000329255.3:c.740T>A ENSP00000332744.3:p.Leu247Gln
NM_021926.3:c.740T>A NP_068745.2:p.Leu247Gln
XM_011520264.1:c.740T>A XP_011518566.1:p.Leu247Gln
XM_011520265.1:c.218T>A XP_011518567.1:p.Leu73Gln
XM_011520266.1:c.218T>A XP_011518568.1:p.Leu73Gln
NM_021926.4:c.740T>A MANE Select NP_068745.2:p.Leu247Gln
Search 100 bp 5'
Search 100 bp 3'