Canonical Allele Identifier: CA16041696
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 370148
ClinVar RCV Id: RCV000411899
dbSNP Id: rs1057516270
MyVariant Identifiers: chr14:g.88429824C>T (hg19) chr14:g.87963480C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87963480C>T , CM000676.2:g.87963480C>T GRCh38
NC_000014.8:g.88429824C>T , CM000676.1:g.88429824C>T GRCh37
NC_000014.7:g.87499577C>T NCBI36
NG_011853.2:g.35084G>A
NG_011853.3:g.35084G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.1065G>A MANE Select ENSP00000261304.2:p.Trp355Ter
ENST00000261304.6:c.1065G>A ENSP00000261304.2:p.Trp355Ter
ENST00000393568.8:c.996G>A ENSP00000377198.4:p.Trp332Ter
ENST00000393569.6:c.987G>A ENSP00000377199.2:p.Trp329Ter
ENST00000474294.6:n.1055G>A
ENST00000544807.6:c.897G>A ENSP00000437513.2:p.Trp299Ter
ENST00000555000.5:c.432G>A ENSP00000450472.1:p.Trp144Ter
ENST00000557316.5:c.*463G>A ENSP00000452314.1:n.*463G>A
ENST00000557520.1:n.151G>A
ENST00000622264.4:c.1055G>A
NM_000153.3:c.1065G>A NP_000144.2:p.Trp355Ter
NM_001201401.1:c.996G>A NP_001188330.1:p.Trp332Ter
NM_001201402.1:c.987G>A NP_001188331.1:p.Trp329Ter
XM_011536618.1:c.897G>A XP_011534920.1:p.Trp299Ter
XM_011536618.2:c.897G>A XP_011534920.1:p.Trp299Ter
NM_000153.4:c.1065G>A MANE Select NP_000144.2:p.Trp355Ter
NM_001201401.2:c.996G>A NP_001188330.1:p.Trp332Ter
NM_001201402.2:c.987G>A NP_001188331.1:p.Trp329Ter
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