Canonical Allele Identifier: CA16043485
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 374023
ClinVar RCV Id: RCV000415102 RCV001198292
dbSNP Id: rs1057518843
MyVariant Identifiers: chr14:g.88454867C>T (hg19) chr14:g.87988523C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87988523C>T , CM000676.2:g.87988523C>T GRCh38
NC_000014.8:g.88454867C>T , CM000676.1:g.88454867C>T GRCh37
NC_000014.7:g.87524620C>T NCBI36
NG_011853.2:g.10041G>A
NG_011853.3:g.10041G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.196G>A MANE Select ENSP00000261304.2:p.Ala66Thr
ENST00000261304.6:c.196G>A ENSP00000261304.2:p.Ala66Thr
ENST00000393568.8:c.196-316G>A ENSP00000377198.4:n.196-316G>A
ENST00000393569.6:c.118G>A ENSP00000377199.2:p.Ala40Thr
ENST00000474294.6:n.186G>A
ENST00000544807.6:c.28G>A ENSP00000437513.2:p.Ala10Thr
ENST00000554372.5:c.196G>A ENSP00000451884.1:p.Ala66Thr
ENST00000554916.5:n.75G>A
ENST00000555956.1:n.1G>A
ENST00000556879.5:c.256G>A ENSP00000452208.1:n.256G>A
ENST00000557316.5:c.196G>A ENSP00000452314.1:p.Ala66Thr
ENST00000622264.4:c.186G>A
NM_000153.3:c.196G>A NP_000144.2:p.Ala66Thr
NM_001201401.1:c.196-316G>A NP_001188330.1:n.196-316G>A
NM_001201402.1:c.118G>A NP_001188331.1:p.Ala40Thr
XM_011536618.1:c.28G>A XP_011534920.1:p.Ala10Thr
XM_011536618.2:c.28G>A XP_011534920.1:p.Ala10Thr
NM_000153.4:c.196G>A MANE Select NP_000144.2:p.Ala66Thr
NM_001201401.2:c.196-316G>A NP_001188330.1:n.196-316G>A
NM_001201402.2:c.118G>A NP_001188331.1:p.Ala40Thr
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