Canonical Allele Identifier: CA7297288

Gene: GALC

Linked Data

• dbSNP Id: rs777994699
• ExAC: 14:88442849 C / T
• gnomAD v2: 14-88442849-C-T
• gnomAD v4: 14-87976505-C-T
• MyVariant Identifiers: chr14:g.88442849C>T (hg19) ; chr14:g.87976505C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976505C>T , CM000676.2:g.87976505C>T	GRCh38
NC_000014.8:g.88442849C>T , CM000676.1:g.88442849C>T	GRCh37
NC_000014.7:g.87512602C>T	NCBI36
NG_011853.2:g.22059G>A
NG_011853.3:g.22059G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.622-17G>A MANE Select	ENSP00000261304.2:n.622-17G>A
ENST00000261304.6:c.622-17G>A	ENSP00000261304.2:n.622-17G>A
ENST00000393568.8:c.553-17G>A	ENSP00000377198.4:n.553-17G>A
ENST00000393569.6:c.544-17G>A	ENSP00000377199.2:n.544-17G>A
ENST00000474294.6:n.612-17G>A
ENST00000477716.3:n.360G>A
ENST00000544807.6:c.454-17G>A	ENSP00000437513.2:n.454-17G>A
ENST00000554916.5:n.501-17G>A
ENST00000555000.5:c.-12-17G>A	ENSP00000450472.1:n.-12-17G>A
ENST00000557316.5:c.*20-17G>A	ENSP00000452314.1:n.*20-17G>A
ENST00000622264.4:c.612-17G>A
NM_000153.3:c.622-17G>A	NP_000144.2:n.622-17G>A
NM_001201401.1:c.553-17G>A	NP_001188330.1:n.553-17G>A
NM_001201402.1:c.544-17G>A	NP_001188331.1:n.544-17G>A
XM_011536618.1:c.454-17G>A	XP_011534920.1:n.454-17G>A
XM_011536618.2:c.454-17G>A	XP_011534920.1:n.454-17G>A
NM_000153.4:c.622-17G>A MANE Select	NP_000144.2:n.622-17G>A
NM_001201401.2:c.553-17G>A	NP_001188330.1:n.553-17G>A
NM_001201402.2:c.544-17G>A	NP_001188331.1:n.544-17G>A