Canonical Allele Identifier: CA2739278038

Gene: GALC

Linked Data

• ClinVar Variation Id: 2786281
• ClinVar RCV Id: RCV003609435

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988545del , CM000676.2:g.87988545del	GRCh38
NC_000014.8:g.88454889del , CM000676.1:g.88454889del	GRCh37
NC_000014.7:g.87524642del	NCBI36
NG_011853.2:g.10022del
NG_011853.3:g.10022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.196-19del MANE Select	ENSP00000261304.2:n.196-19del
ENST00000261304.6:c.196-19del	ENSP00000261304.2:n.196-19del
ENST00000393568.8:c.196-335del	ENSP00000377198.4:n.196-335del
ENST00000393569.6:c.118-19del	ENSP00000377199.2:n.118-19del
ENST00000474294.6:n.186-19del
ENST00000544807.6:c.28-19del	ENSP00000437513.2:n.28-19del
ENST00000554372.5:c.196-19del	ENSP00000451884.1:n.196-19del
ENST00000554916.5:n.75-19del
ENST00000556879.5:c.256-19del	ENSP00000452208.1:n.256-19del
ENST00000557316.5:c.196-19del	ENSP00000452314.1:n.196-19del
ENST00000622264.4:c.186-19del
NM_000153.3:c.196-19del	NP_000144.2:n.196-19del
NM_001201401.1:c.196-335del	NP_001188330.1:n.196-335del
NM_001201402.1:c.118-19del	NP_001188331.1:n.118-19del
XM_011536618.1:c.28-19del	XP_011534920.1:n.28-19del
XM_011536618.2:c.28-19del	XP_011534920.1:n.28-19del
NM_000153.4:c.196-19del MANE Select	NP_000144.2:n.196-19del
NM_001201401.2:c.196-335del	NP_001188330.1:n.196-335del
NM_001201402.2:c.118-19del	NP_001188331.1:n.118-19del