Canonical Allele Identifier: CA16041700
Gene: GALC HGNC NCBI

Linked Data

ClinVar Variation Id: 370631
ClinVar RCV Id: RCV000412229 RCV001782868
dbSNP Id: rs1057516642
gnomAD v4: 14-87965586-G-C
MyVariant Identifiers: chr14:g.88431930G>C (hg19) chr14:g.87965586G>C (hg38)
PubMed: PMID:8595408 PMID:21876145 PMID:24252386
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87965586G>C , CM000676.2:g.87965586G>C GRCh38
NC_000014.8:g.88431930G>C , CM000676.1:g.88431930G>C GRCh37
NC_000014.7:g.87501683G>C NCBI36
NG_011853.2:g.32978C>G
NG_011853.3:g.32978C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.952C>G MANE Select ENSP00000261304.2:p.Pro318Ala
ENST00000261304.6:c.952C>G ENSP00000261304.2:p.Pro318Ala
ENST00000393568.8:c.883C>G ENSP00000377198.4:p.Pro295Ala
ENST00000393569.6:c.874C>G ENSP00000377199.2:p.Pro292Ala
ENST00000474294.6:n.942C>G
ENST00000544807.6:c.784C>G ENSP00000437513.2:p.Pro262Ala
ENST00000555000.5:c.319C>G ENSP00000450472.1:p.Pro107Ala
ENST00000557316.5:c.*350C>G ENSP00000452314.1:n.*350C>G
ENST00000557520.1:n.38C>G
ENST00000622264.4:c.942C>G
NM_000153.3:c.952C>G NP_000144.2:p.Pro318Ala
NM_001201401.1:c.883C>G NP_001188330.1:p.Pro295Ala
NM_001201402.1:c.874C>G NP_001188331.1:p.Pro292Ala
XM_011536618.1:c.784C>G XP_011534920.1:p.Pro262Ala
XM_011536618.2:c.784C>G XP_011534920.1:p.Pro262Ala
NM_000153.4:c.952C>G MANE Select NP_000144.2:p.Pro318Ala
NM_001201401.2:c.883C>G NP_001188330.1:p.Pro295Ala
NM_001201402.2:c.874C>G NP_001188331.1:p.Pro292Ala
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