Canonical Allele Identifier: CA380181662
Gene: ALX4 HGNC NCBI

Linked Data

dbSNP Id: rs1207788593
gnomAD v2: 11-44286655-G-T
gnomAD v3: 11-44265105-G-T
gnomAD v4: 11-44265105-G-T
MyVariant Identifiers: chr11:g.44286655G>T (hg19) chr11:g.44265105G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44265105G>T , CM000673.2:g.44265105G>T GRCh38
NC_000011.9:g.44286655G>T , CM000673.1:g.44286655G>T GRCh37
NC_000011.8:g.44243231G>T NCBI36
NG_015809.1:g.50062C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000652299.1:c.985C>A MANE Select ENSP00000498217.1:p.Pro329Thr
ENST00000329255.3:c.985C>A ENSP00000332744.3:p.Pro329Thr
NM_021926.3:c.985C>A NP_068745.2:p.Pro329Thr
XM_011520265.1:c.463C>A XP_011518567.1:p.Pro155Thr
XM_011520266.1:c.463C>A XP_011518568.1:p.Pro155Thr
NM_021926.4:c.985C>A MANE Select NP_068745.2:p.Pro329Thr
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