Canonical Allele Identifier: CA615276306

Gene: GALC

Linked Data

• dbSNP Id: rs1308796538
• gnomAD v2: 14-88442745-TG-T
• MyVariant Identifiers: chr14:g.88442746del (hg19) ; chr14:g.87976402del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976403del , CM000676.2:g.87976403del	GRCh38
NC_000014.8:g.88442747del , CM000676.1:g.88442747del	GRCh37
NC_000014.7:g.87512500del	NCBI36
NG_011853.2:g.22162del
NG_011853.3:g.22162del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.708del MANE Select	ENSP00000261304.2:p.Met237CysfsTer14
ENST00000261304.6:c.708del	ENSP00000261304.2:p.Met237CysfsTer14
ENST00000393568.8:c.639del	ENSP00000377198.4:p.Met214CysfsTer14
ENST00000393569.6:c.630del	ENSP00000377199.2:p.Met211CysfsTer14
ENST00000474294.6:n.698del
ENST00000477716.3:n.463del
ENST00000544807.6:c.540del	ENSP00000437513.2:p.Met181CysfsTer14
ENST00000554916.5:n.587del
ENST00000555000.5:c.75del	ENSP00000450472.1:p.Met26CysfsTer14
ENST00000557316.5:c.*106del	ENSP00000452314.1:n.*106del
ENST00000622264.4:c.698del
NM_000153.3:c.708del	NP_000144.2:p.Met237CysfsTer14
NM_001201401.1:c.639del	NP_001188330.1:p.Met214CysfsTer14
NM_001201402.1:c.630del	NP_001188331.1:p.Met211CysfsTer14
XM_011536618.1:c.540del	XP_011534920.1:p.Met181CysfsTer14
XM_011536618.2:c.540del	XP_011534920.1:p.Met181CysfsTer14
NM_000153.4:c.708del MANE Select	NP_000144.2:p.Met237CysfsTer14
NM_001201401.2:c.639del	NP_001188330.1:p.Met214CysfsTer14
NM_001201402.2:c.630del	NP_001188331.1:p.Met211CysfsTer14