Canonical Allele Identifier: CA115683
Gene: A4GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 2692
ClinVar RCV Id: RCV000002811
dbSNP Id: rs74315453

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.42693404A>T , CM000684.2:g.42693404A>T GRCh38
NC_000022.10:g.43089410A>T , CM000684.1:g.43089410A>T GRCh37
NC_000022.9:g.41419354A>T NCBI36
NG_007495.1:g.32467T>A
NG_007495.2:g.32898T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000249005.3:c.548T>A ENSP00000249005.2:p.Met183Lys
ENST00000381278.4:c.548T>A ENSP00000370678.3:p.Met183Lys
ENST00000642412.2:c.548T>A MANE Select ENSP00000494127.1:p.Met183Lys
ENST00000249005.2:c.548T>A ENSP00000249005.2:p.Met183Lys
ENST00000381278.3:c.548T>A ENSP00000370678.3:p.Met183Lys
ENST00000401850.5:c.548T>A ENSP00000384794.1:p.Met183Lys
NM_017436.4:c.548T>A NP_059132.1:p.Met183Lys
XM_005261643.1:c.548T>A XP_005261700.1:p.Met183Lys
XM_005261644.1:c.548T>A XP_005261701.1:p.Met183Lys
XM_005261646.3:c.548T>A XP_005261703.1:p.Met183Lys
XM_005261647.1:c.548T>A XP_005261704.1:p.Met183Lys
XM_005261648.2:c.548T>A XP_005261705.1:p.Met183Lys
XM_006724265.2:c.548T>A XP_006724328.1:p.Met183Lys
XM_006724266.2:c.548T>A XP_006724329.1:p.Met183Lys
XM_011530233.1:c.548T>A XP_011528535.1:p.Met183Lys
XM_011530234.1:c.548T>A XP_011528536.1:p.Met183Lys
NM_001318038.2:c.548T>A NP_001304967.1:p.Met183Lys
NM_017436.6:c.548T>A NP_059132.1:p.Met183Lys
XM_005261644.2:c.548T>A XP_005261701.1:p.Met183Lys
XM_005261646.4:c.548T>A XP_005261703.1:p.Met183Lys
XM_005261647.3:c.548T>A XP_005261704.1:p.Met183Lys
XM_005261648.4:c.548T>A XP_005261705.1:p.Met183Lys
XM_006724265.3:c.548T>A XP_006724328.1:p.Met183Lys
XM_006724266.3:c.548T>A XP_006724329.1:p.Met183Lys
XM_011530233.2:c.548T>A XP_011528535.1:p.Met183Lys
XM_017028831.1:c.548T>A XP_016884320.1:p.Met183Lys
NM_017436.7:c.548T>A MANE Select NP_059132.1:p.Met183Lys
NM_001318038.3:c.548T>A NP_001304967.1:p.Met183Lys