Canonical Allele Identifier: CA912979926

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88450744_88450765del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984400_87984421del , CM000676.2:g.87984400_87984421del	GRCh38
NC_000014.8:g.88450744_88450765del , CM000676.1:g.88450744_88450765del	GRCh37
NC_000014.7:g.87520497_87520518del	NCBI36
NG_011853.2:g.14143_14164del
NG_011853.3:g.14143_14164del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.555_576del MANE Select	ENSP00000261304.2:p.Tyr185Ter
ENST00000261304.6:c.555_576del	ENSP00000261304.2:p.Tyr185Ter
ENST00000393568.8:c.486_507del	ENSP00000377198.4:p.Tyr162Ter
ENST00000393569.6:c.477_498del	ENSP00000377199.2:p.Tyr159Ter
ENST00000474294.6:n.545_566del
ENST00000544807.6:c.387_408del	ENSP00000437513.2:p.Tyr129Ter
ENST00000554372.5:c.*304_*325del	ENSP00000451884.1:n.*304_*325del
ENST00000554916.5:n.434_455del
ENST00000556261.5:n.256_277del
ENST00000557316.5:c.555_576del	ENSP00000452314.1:p.Tyr185Ter
ENST00000622264.4:c.545_566del
NM_000153.3:c.555_576del	NP_000144.2:p.Tyr185Ter
NM_001201401.1:c.486_507del	NP_001188330.1:p.Tyr162Ter
NM_001201402.1:c.477_498del	NP_001188331.1:p.Tyr159Ter
XM_011536618.1:c.387_408del	XP_011534920.1:p.Tyr129Ter
XM_011536618.2:c.387_408del	XP_011534920.1:p.Tyr129Ter
NM_000153.4:c.555_576del MANE Select	NP_000144.2:p.Tyr185Ter
NM_001201401.2:c.486_507del	NP_001188330.1:p.Tyr162Ter
NM_001201402.2:c.477_498del	NP_001188331.1:p.Tyr159Ter