Canonical Allele Identifier: CA390747603

Gene: GALC

Linked Data

• gnomAD v4: 14-87965599-G-T
• MyVariant Identifiers: chr14:g.88431943G>T (hg19) ; chr14:g.87965599G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965599G>T , CM000676.2:g.87965599G>T	GRCh38
NC_000014.8:g.88431943G>T , CM000676.1:g.88431943G>T	GRCh37
NC_000014.7:g.87501696G>T	NCBI36
NG_011853.2:g.32965C>A
NG_011853.3:g.32965C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.939C>A MANE Select	ENSP00000261304.2:p.Tyr313Ter
ENST00000261304.6:c.939C>A	ENSP00000261304.2:p.Tyr313Ter
ENST00000393568.8:c.870C>A	ENSP00000377198.4:p.Tyr290Ter
ENST00000393569.6:c.861C>A	ENSP00000377199.2:p.Tyr287Ter
ENST00000474294.6:n.929C>A
ENST00000544807.6:c.771C>A	ENSP00000437513.2:p.Tyr257Ter
ENST00000555000.5:c.306C>A	ENSP00000450472.1:p.Tyr102Ter
ENST00000557316.5:c.*337C>A	ENSP00000452314.1:n.*337C>A
ENST00000557520.1:n.25C>A
ENST00000622264.4:c.929C>A
NM_000153.3:c.939C>A	NP_000144.2:p.Tyr313Ter
NM_001201401.1:c.870C>A	NP_001188330.1:p.Tyr290Ter
NM_001201402.1:c.861C>A	NP_001188331.1:p.Tyr287Ter
XM_011536618.1:c.771C>A	XP_011534920.1:p.Tyr257Ter
XM_011536618.2:c.771C>A	XP_011534920.1:p.Tyr257Ter
NM_000153.4:c.939C>A MANE Select	NP_000144.2:p.Tyr313Ter
NM_001201401.2:c.870C>A	NP_001188330.1:p.Tyr290Ter
NM_001201402.2:c.861C>A	NP_001188331.1:p.Tyr287Ter