Canonical Allele Identifier: CA615276310

Gene: GALC

Linked Data

• dbSNP Id: rs1279870575
• gnomAD v2: 14-88442748-A-AG
• gnomAD v4: 14-87976404-A-AG
• MyVariant Identifiers: chr14:g.88442748_88442749insG (hg19) ; chr14:g.87976404_87976405insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976404_87976405insG , CM000676.2:g.87976404_87976405insG	GRCh38
NC_000014.8:g.88442748_88442749insG , CM000676.1:g.88442748_88442749insG	GRCh37
NC_000014.7:g.87512501_87512502insG	NCBI36
NG_011853.2:g.22159_22160insC
NG_011853.3:g.22159_22160insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.705_706insC MANE Select	ENSP00000261304.2:p.Ser236LeufsTer5
ENST00000261304.6:c.705_706insC	ENSP00000261304.2:p.Ser236LeufsTer5
ENST00000393568.8:c.636_637insC	ENSP00000377198.4:p.Ser213LeufsTer5
ENST00000393569.6:c.627_628insC	ENSP00000377199.2:p.Ser210LeufsTer5
ENST00000474294.6:n.695_696insC
ENST00000477716.3:n.460_461insC
ENST00000544807.6:c.537_538insC	ENSP00000437513.2:p.Ser180LeufsTer5
ENST00000554916.5:n.584_585insC
ENST00000555000.5:c.72_73insC	ENSP00000450472.1:p.Ser25LeufsTer5
ENST00000557316.5:c.*103_*104insC	ENSP00000452314.1:n.*103_*104insC
ENST00000622264.4:c.695_696insC
NM_000153.3:c.705_706insC	NP_000144.2:p.Ser236LeufsTer5
NM_001201401.1:c.636_637insC	NP_001188330.1:p.Ser213LeufsTer5
NM_001201402.1:c.627_628insC	NP_001188331.1:p.Ser210LeufsTer5
XM_011536618.1:c.537_538insC	XP_011534920.1:p.Ser180LeufsTer5
XM_011536618.2:c.537_538insC	XP_011534920.1:p.Ser180LeufsTer5
NM_000153.4:c.705_706insC MANE Select	NP_000144.2:p.Ser236LeufsTer5
NM_001201401.2:c.636_637insC	NP_001188330.1:p.Ser213LeufsTer5
NM_001201402.2:c.627_628insC	NP_001188331.1:p.Ser210LeufsTer5