Canonical Allele Identifier: CA264711124

Gene: GALC

Linked Data

• dbSNP Id: rs1037786780
• MyVariant Identifiers: chr14:g.88450905T>A (hg19) ; chr14:g.87984561T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984561T>A , CM000676.2:g.87984561T>A	GRCh38
NC_000014.8:g.88450905T>A , CM000676.1:g.88450905T>A	GRCh37
NC_000014.7:g.87520658T>A	NCBI36
NG_011853.2:g.14003A>T
NG_011853.3:g.14003A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.443-28A>T MANE Select	ENSP00000261304.2:n.443-28A>T
ENST00000261304.6:c.443-28A>T	ENSP00000261304.2:n.443-28A>T
ENST00000393568.8:c.374-28A>T	ENSP00000377198.4:n.374-28A>T
ENST00000393569.6:c.365-28A>T	ENSP00000377199.2:n.365-28A>T
ENST00000474294.6:n.433-28A>T
ENST00000544807.6:c.275-28A>T	ENSP00000437513.2:n.275-28A>T
ENST00000554372.5:c.*192-28A>T	ENSP00000451884.1:n.*192-28A>T
ENST00000554916.5:n.322-28A>T
ENST00000556261.5:n.144-28A>T
ENST00000556879.5:c.503-28A>T	ENSP00000452208.1:n.503-28A>T
ENST00000557316.5:c.443-28A>T	ENSP00000452314.1:n.443-28A>T
ENST00000622264.4:c.433-28A>T
NM_000153.3:c.443-28A>T	NP_000144.2:n.443-28A>T
NM_001201401.1:c.374-28A>T	NP_001188330.1:n.374-28A>T
NM_001201402.1:c.365-28A>T	NP_001188331.1:n.365-28A>T
XM_011536618.1:c.275-28A>T	XP_011534920.1:n.275-28A>T
XM_011536618.2:c.275-28A>T	XP_011534920.1:n.275-28A>T
NM_000153.4:c.443-28A>T MANE Select	NP_000144.2:n.443-28A>T
NM_001201401.2:c.374-28A>T	NP_001188330.1:n.374-28A>T
NM_001201402.2:c.365-28A>T	NP_001188331.1:n.365-28A>T