Canonical Allele Identifier: CA709638049

Gene: GALC

Linked Data

• dbSNP Id: rs1388862584
• MyVariant Identifiers: chr14:g.88450703C>T (hg19) ; chr14:g.87984359C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984359C>T , CM000676.2:g.87984359C>T	GRCh38
NC_000014.8:g.88450703C>T , CM000676.1:g.88450703C>T	GRCh37
NC_000014.7:g.87520456C>T	NCBI36
NG_011853.2:g.14205G>A
NG_011853.3:g.14205G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.582+35G>A MANE Select	ENSP00000261304.2:n.582+35G>A
ENST00000261304.6:c.582+35G>A	ENSP00000261304.2:n.582+35G>A
ENST00000393568.8:c.513+35G>A	ENSP00000377198.4:n.513+35G>A
ENST00000393569.6:c.504+35G>A	ENSP00000377199.2:n.504+35G>A
ENST00000474294.6:n.572+35G>A
ENST00000544807.6:c.414+35G>A	ENSP00000437513.2:n.414+35G>A
ENST00000554372.5:c.*331+35G>A	ENSP00000451884.1:n.*331+35G>A
ENST00000554916.5:n.461+35G>A
ENST00000556261.5:n.283+35G>A
ENST00000557316.5:c.582+35G>A	ENSP00000452314.1:n.582+35G>A
ENST00000622264.4:c.572+35G>A
NM_000153.3:c.582+35G>A	NP_000144.2:n.582+35G>A
NM_001201401.1:c.513+35G>A	NP_001188330.1:n.513+35G>A
NM_001201402.1:c.504+35G>A	NP_001188331.1:n.504+35G>A
XM_011536618.1:c.414+35G>A	XP_011534920.1:n.414+35G>A
XM_011536618.2:c.414+35G>A	XP_011534920.1:n.414+35G>A
NM_000153.4:c.582+35G>A MANE Select	NP_000144.2:n.582+35G>A
NM_001201401.2:c.513+35G>A	NP_001188330.1:n.513+35G>A
NM_001201402.2:c.504+35G>A	NP_001188331.1:n.504+35G>A