Canonical Allele Identifier: CA658823914

Gene: GALC

Linked Data

• ClinVar Variation Id: 551990
• ClinVar RCV Id: RCV000667173
• dbSNP Id: rs1555383500
• MyVariant Identifiers: chr14:g.87984401_87984421del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984404_87984424del , CM000676.2:g.87984404_87984424del	GRCh38
NC_000014.8:g.88450748_88450768del , CM000676.1:g.88450748_88450768del	GRCh37
NC_000014.7:g.87520501_87520521del	NCBI36
NG_011853.2:g.14143_14163del
NG_011853.3:g.14143_14163del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.555_575del MANE Select	ENSP00000261304.2:p.His186_Tyr192del
ENST00000261304.6:c.555_575del	ENSP00000261304.2:p.His186_Tyr192del
ENST00000393568.8:c.486_506del	ENSP00000377198.4:p.His163_Tyr169del
ENST00000393569.6:c.477_497del	ENSP00000377199.2:p.His160_Tyr166del
ENST00000474294.6:n.545_565del
ENST00000544807.6:c.387_407del	ENSP00000437513.2:p.His130_Tyr136del
ENST00000554372.5:c.*304_*324del	ENSP00000451884.1:n.*304_*324del
ENST00000554916.5:n.434_454del
ENST00000556261.5:n.256_276del
ENST00000557316.5:c.555_575del	ENSP00000452314.1:p.His186_Tyr192del
ENST00000622264.4:c.545_565del
NM_000153.3:c.555_575del	NP_000144.2:p.His186_Tyr192del
NM_001201401.1:c.486_506del	NP_001188330.1:p.His163_Tyr169del
NM_001201402.1:c.477_497del	NP_001188331.1:p.His160_Tyr166del
XM_011536618.1:c.387_407del	XP_011534920.1:p.His130_Tyr136del
XM_011536618.2:c.387_407del	XP_011534920.1:p.His130_Tyr136del
NM_000153.4:c.555_575del MANE Select	NP_000144.2:p.His186_Tyr192del
NM_001201401.2:c.486_506del	NP_001188330.1:p.His163_Tyr169del
NM_001201402.2:c.477_497del	NP_001188331.1:p.His160_Tyr166del