Canonical Allele Identifier: CA16041703
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 371327
ClinVar RCV Id: RCV000411607
dbSNP Id: rs1057517185
MyVariant Identifiers: chr14:g.88450852_88450853dupCC (hg19) chr14:g.88450851_88450852insCC (hg19) chr14:g.87984508_87984509dupCC (hg38) chr14:g.87984507_87984508insCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87984508_87984509dup , CM000676.2:g.87984508_87984509dup GRCh38
NC_000014.8:g.88450852_88450853dup , CM000676.1:g.88450852_88450853dup GRCh37
NC_000014.7:g.87520605_87520606dup NCBI36
NG_011853.2:g.14055_14056dup
NG_011853.3:g.14055_14056dup

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.467_468dup MANE Select ENSP00000261304.2:p.Leu157GlyfsTer15
ENST00000261304.6:c.467_468dup ENSP00000261304.2:p.Leu157GlyfsTer15
ENST00000393568.8:c.398_399dup ENSP00000377198.4:p.Leu134GlyfsTer15
ENST00000393569.6:c.389_390dup ENSP00000377199.2:p.Leu131GlyfsTer15
ENST00000474294.6:n.457_458dup
ENST00000544807.6:c.299_300dup ENSP00000437513.2:p.Leu101GlyfsTer15
ENST00000554372.5:c.*216_*217dup ENSP00000451884.1:n.*216_*217dup
ENST00000554916.5:n.346_347dup
ENST00000556261.5:n.168_169dup
ENST00000556879.5:c.527_528dup ENSP00000452208.1:n.527_528dup
ENST00000557316.5:c.467_468dup ENSP00000452314.1:p.Leu157GlyfsTer15
ENST00000622264.4:c.457_458dup
NM_000153.3:c.467_468dup NP_000144.2:p.Leu157GlyfsTer15
NM_001201401.1:c.398_399dup NP_001188330.1:p.Leu134GlyfsTer15
NM_001201402.1:c.389_390dup NP_001188331.1:p.Leu131GlyfsTer15
XM_011536618.1:c.299_300dup XP_011534920.1:p.Leu101GlyfsTer15
XM_011536618.2:c.299_300dup XP_011534920.1:p.Leu101GlyfsTer15
NM_000153.4:c.467_468dup MANE Select NP_000144.2:p.Leu157GlyfsTer15
NM_001201401.2:c.398_399dup NP_001188330.1:p.Leu134GlyfsTer15
NM_001201402.2:c.389_390dup NP_001188331.1:p.Leu131GlyfsTer15
Search 100 bp 5'
Search 100 bp 3'