Canonical Allele Identifier: CA264711138

Gene: GALC

Linked Data

• dbSNP Id: rs754069706
• gnomAD v4: 14-87984592-A-C
• MyVariant Identifiers: chr14:g.88450936A>C (hg19) ; chr14:g.87984592A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984592A>C , CM000676.2:g.87984592A>C	GRCh38
NC_000014.8:g.88450936A>C , CM000676.1:g.88450936A>C	GRCh37
NC_000014.7:g.87520689A>C	NCBI36
NG_011853.2:g.13972T>G
NG_011853.3:g.13972T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.443-59T>G MANE Select	ENSP00000261304.2:n.443-59T>G
ENST00000261304.6:c.443-59T>G	ENSP00000261304.2:n.443-59T>G
ENST00000393568.8:c.374-59T>G	ENSP00000377198.4:n.374-59T>G
ENST00000393569.6:c.365-59T>G	ENSP00000377199.2:n.365-59T>G
ENST00000474294.6:n.433-59T>G
ENST00000544807.6:c.275-59T>G	ENSP00000437513.2:n.275-59T>G
ENST00000554372.5:c.*192-59T>G	ENSP00000451884.1:n.*192-59T>G
ENST00000554916.5:n.322-59T>G
ENST00000556261.5:n.144-59T>G
ENST00000556879.5:c.503-59T>G	ENSP00000452208.1:n.503-59T>G
ENST00000557316.5:c.443-59T>G	ENSP00000452314.1:n.443-59T>G
ENST00000622264.4:c.433-59T>G
NM_000153.3:c.443-59T>G	NP_000144.2:n.443-59T>G
NM_001201401.1:c.374-59T>G	NP_001188330.1:n.374-59T>G
NM_001201402.1:c.365-59T>G	NP_001188331.1:n.365-59T>G
XM_011536618.1:c.275-59T>G	XP_011534920.1:n.275-59T>G
XM_011536618.2:c.275-59T>G	XP_011534920.1:n.275-59T>G
NM_000153.4:c.443-59T>G MANE Select	NP_000144.2:n.443-59T>G
NM_001201401.2:c.374-59T>G	NP_001188330.1:n.374-59T>G
NM_001201402.2:c.365-59T>G	NP_001188331.1:n.365-59T>G