Canonical Allele Identifier: CA615278292

Gene: GALC

Linked Data

• dbSNP Id: rs1567010023
• gnomAD v2: 14-88450745-TA-T
• gnomAD v4: 14-87984401-TA-T
• MyVariant Identifiers: chr14:g.88450746del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984403del , CM000676.2:g.87984403del	GRCh38
NC_000014.8:g.88450747del , CM000676.1:g.88450747del	GRCh37
NC_000014.7:g.87520500del	NCBI36
NG_011853.2:g.14162del
NG_011853.3:g.14162del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.574del MANE Select	ENSP00000261304.2:p.Tyr192IlefsTer18
ENST00000261304.6:c.574del	ENSP00000261304.2:p.Tyr192IlefsTer18
ENST00000393568.8:c.505del	ENSP00000377198.4:p.Tyr169IlefsTer18
ENST00000393569.6:c.496del	ENSP00000377199.2:p.Tyr166IlefsTer18
ENST00000474294.6:n.564del
ENST00000544807.6:c.406del	ENSP00000437513.2:p.Tyr136IlefsTer18
ENST00000554372.5:c.*323del	ENSP00000451884.1:n.*323del
ENST00000554916.5:n.453del
ENST00000556261.5:n.275del
ENST00000557316.5:c.574del	ENSP00000452314.1:p.Tyr192IlefsTer27
ENST00000622264.4:c.564del
NM_000153.3:c.574del	NP_000144.2:p.Tyr192IlefsTer18
NM_001201401.1:c.505del	NP_001188330.1:p.Tyr169IlefsTer18
NM_001201402.1:c.496del	NP_001188331.1:p.Tyr166IlefsTer18
XM_011536618.1:c.406del	XP_011534920.1:p.Tyr136IlefsTer18
XM_011536618.2:c.406del	XP_011534920.1:p.Tyr136IlefsTer18
NM_000153.4:c.574del MANE Select	NP_000144.2:p.Tyr192IlefsTer18
NM_001201401.2:c.505del	NP_001188330.1:p.Tyr169IlefsTer18
NM_001201402.2:c.496del	NP_001188331.1:p.Tyr166IlefsTer18