Canonical Allele Identifier: CA115693
Gene: A4GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 2697
ClinVar RCV Id: RCV000002816
dbSNP Id: rs387906280

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42692926dup , CM000684.2:g.42692926dup GRCh38
NC_000022.10:g.43088932dup , CM000684.1:g.43088932dup GRCh37
NC_000022.9:g.41418876dup NCBI36
NG_007495.1:g.32948dup
NG_007495.2:g.33379dup

Transcript Alleles

HGVS Amino-acid change
ENST00000249005.3:c.1029dup ENSP00000249005.2:p.Thr344HisfsTer?
ENST00000381278.4:c.1029dup ENSP00000370678.3:p.Thr344HisfsTer?
ENST00000642412.2:c.1029dup MANE Select ENSP00000494127.1:p.Thr344HisfsTer?
ENST00000249005.2:c.1029dup ENSP00000249005.2:p.Thr344HisfsTer?
ENST00000381278.3:c.1029dup ENSP00000370678.3:p.Thr344HisfsTer?
ENST00000401850.5:c.1029dup ENSP00000384794.1:p.Thr344HisfsTer?
NM_017436.4:c.1029dup NP_059132.1:p.Thr344HisfsTer?
XM_005261643.1:c.1029dup XP_005261700.1:p.Thr344HisfsTer?
XM_005261644.1:c.1029dup XP_005261701.1:p.Thr344HisfsTer?
XM_005261646.3:c.1029dup XP_005261703.1:p.Thr344HisfsTer?
XM_005261647.1:c.1029dup XP_005261704.1:p.Thr344HisfsTer?
XM_005261648.2:c.1029dup XP_005261705.1:p.Thr344HisfsTer?
XM_006724265.2:c.1029dup XP_006724328.1:p.Thr344HisfsTer?
XM_006724266.2:c.1029dup XP_006724329.1:p.Thr344HisfsTer?
XM_011530233.1:c.1029dup XP_011528535.1:p.Thr344HisfsTer?
XM_011530234.1:c.1029dup XP_011528536.1:p.Thr344HisfsTer?
NM_001318038.2:c.1029dup NP_001304967.1:p.Thr344HisfsTer?
NM_017436.6:c.1029dup NP_059132.1:p.Thr344HisfsTer?
XM_005261644.2:c.1029dup XP_005261701.1:p.Thr344HisfsTer?
XM_005261646.4:c.1029dup XP_005261703.1:p.Thr344HisfsTer?
XM_005261647.3:c.1029dup XP_005261704.1:p.Thr344HisfsTer?
XM_005261648.4:c.1029dup XP_005261705.1:p.Thr344HisfsTer?
XM_006724265.3:c.1029dup XP_006724328.1:p.Thr344HisfsTer?
XM_006724266.3:c.1029dup XP_006724329.1:p.Thr344HisfsTer?
XM_011530233.2:c.1029dup XP_011528535.1:p.Thr344HisfsTer?
XM_017028831.1:c.1029dup XP_016884320.1:p.Thr344HisfsTer?
NM_017436.7:c.1029dup MANE Select NP_059132.1:p.Thr344HisfsTer?
NM_001318038.3:c.1029dup NP_001304967.1:p.Thr344HisfsTer?