Canonical Allele Identifier: CA390749825

Gene: GALC

Linked Data

• gnomAD v4: 14-87976486-T-C
• MyVariant Identifiers: chr14:g.88442830T>C (hg19) ; chr14:g.87976486T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976486T>C , CM000676.2:g.87976486T>C	GRCh38
NC_000014.8:g.88442830T>C , CM000676.1:g.88442830T>C	GRCh37
NC_000014.7:g.87512583T>C	NCBI36
NG_011853.2:g.22078A>G
NG_011853.3:g.22078A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.624A>G MANE Select	ENSP00000261304.2:p.Ile208Met
ENST00000261304.6:c.624A>G	ENSP00000261304.2:p.Ile208Met
ENST00000393568.8:c.555A>G	ENSP00000377198.4:p.Ile185Met
ENST00000393569.6:c.546A>G	ENSP00000377199.2:p.Ile182Met
ENST00000474294.6:n.614A>G
ENST00000477716.3:n.379A>G
ENST00000544807.6:c.456A>G	ENSP00000437513.2:p.Ile152Met
ENST00000554916.5:n.503A>G
ENST00000555000.5:c.-10A>G	ENSP00000450472.1:n.-10A>G
ENST00000557316.5:c.*22A>G	ENSP00000452314.1:n.*22A>G
ENST00000622264.4:c.614A>G
NM_000153.3:c.624A>G	NP_000144.2:p.Ile208Met
NM_001201401.1:c.555A>G	NP_001188330.1:p.Ile185Met
NM_001201402.1:c.546A>G	NP_001188331.1:p.Ile182Met
XM_011536618.1:c.456A>G	XP_011534920.1:p.Ile152Met
XM_011536618.2:c.456A>G	XP_011534920.1:p.Ile152Met
NM_000153.4:c.624A>G MANE Select	NP_000144.2:p.Ile208Met
NM_001201401.2:c.555A>G	NP_001188330.1:p.Ile185Met
NM_001201402.2:c.546A>G	NP_001188331.1:p.Ile182Met