Canonical Allele Identifier: CA264708534

Gene: GALC

Linked Data

• dbSNP Id: rs1023383268
• gnomAD v2: 14-88443298-GA-G
• gnomAD v3: 14-87976954-GA-G
• gnomAD v4: 14-87976954-GA-G
• MyVariant Identifiers: chr14:g.88443299del (hg19) ; chr14:g.87976955del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976964del , CM000676.2:g.87976964del	GRCh38
NC_000014.8:g.88443308del , CM000676.1:g.88443308del	GRCh37
NC_000014.7:g.87513061del	NCBI36
NG_011853.2:g.21609del
NG_011853.3:g.21609del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.622-467del MANE Select	ENSP00000261304.2:n.622-467del
ENST00000261304.6:c.622-467del	ENSP00000261304.2:n.622-467del
ENST00000393568.8:c.553-467del	ENSP00000377198.4:n.553-467del
ENST00000393569.6:c.544-467del	ENSP00000377199.2:n.544-467del
ENST00000474294.6:n.612-467del
ENST00000544807.6:c.454-467del	ENSP00000437513.2:n.454-467del
ENST00000554916.5:n.501-467del
ENST00000555000.5:c.-12-467del	ENSP00000450472.1:n.-12-467del
ENST00000557316.5:c.*20-467del	ENSP00000452314.1:n.*20-467del
ENST00000622264.4:c.612-467del
NM_000153.3:c.622-467del	NP_000144.2:n.622-467del
NM_001201401.1:c.553-467del	NP_001188330.1:n.553-467del
NM_001201402.1:c.544-467del	NP_001188331.1:n.544-467del
XM_011536618.1:c.454-467del	XP_011534920.1:n.454-467del
XM_011536618.2:c.454-467del	XP_011534920.1:n.454-467del
NM_000153.4:c.622-467del MANE Select	NP_000144.2:n.622-467del
NM_001201401.2:c.553-467del	NP_001188330.1:n.553-467del
NM_001201402.2:c.544-467del	NP_001188331.1:n.544-467del