Canonical Allele Identifier: CA5955559
Gene: ALX4 HGNC NCBI

Linked Data

dbSNP Id: rs372163762
ExAC: 11:44286660 G / A
gnomAD v2: 11-44286660-G-A
gnomAD v3: 11-44265110-G-A
gnomAD v4: 11-44265110-G-A
MyVariant Identifiers: chr11:g.44286660G>A (hg19) chr11:g.44265110G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44265110G>A , CM000673.2:g.44265110G>A GRCh38
NC_000011.9:g.44286660G>A , CM000673.1:g.44286660G>A GRCh37
NC_000011.8:g.44243236G>A NCBI36
NG_015809.1:g.50057C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000652299.1:c.980C>T MANE Select ENSP00000498217.1:p.Pro327Leu
ENST00000329255.3:c.980C>T ENSP00000332744.3:p.Pro327Leu
NM_021926.3:c.980C>T NP_068745.2:p.Pro327Leu
XM_011520265.1:c.458C>T XP_011518567.1:p.Pro153Leu
XM_011520266.1:c.458C>T XP_011518568.1:p.Pro153Leu
NM_021926.4:c.980C>T MANE Select NP_068745.2:p.Pro327Leu
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