Canonical Allele Identifier: CA390746621

Gene: GALC

Linked Data

• ClinVar Variation Id: 2834865
• ClinVar RCV Id: RCV003608679
• gnomAD v4: 14-87947850-A-G
• MyVariant Identifiers: chr14:g.88414194A>G (hg19) ; chr14:g.87947850A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947850A>G , CM000676.2:g.87947850A>G	GRCh38
NC_000014.8:g.88414194A>G , CM000676.1:g.88414194A>G	GRCh37
NC_000014.7:g.87483947A>G	NCBI36
NG_011853.2:g.50714T>C
NG_011853.3:g.50714T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1367T>C MANE Select	ENSP00000261304.2:p.Leu456Pro
ENST00000261304.6:c.1367T>C	ENSP00000261304.2:p.Leu456Pro
ENST00000393568.8:c.1298T>C	ENSP00000377198.4:p.Leu433Pro
ENST00000393569.6:c.1289T>C	ENSP00000377199.2:p.Leu430Pro
ENST00000544807.6:c.1199T>C	ENSP00000437513.2:p.Leu400Pro
ENST00000555000.5:c.734T>C	ENSP00000450472.1:p.Leu245Pro
ENST00000555179.1:c.84T>C
ENST00000557316.5:c.*765T>C	ENSP00000452314.1:n.*765T>C
NM_000153.3:c.1367T>C	NP_000144.2:p.Leu456Pro
NM_001201401.1:c.1298T>C	NP_001188330.1:p.Leu433Pro
NM_001201402.1:c.1289T>C	NP_001188331.1:p.Leu430Pro
XM_011536618.1:c.1199T>C	XP_011534920.1:p.Leu400Pro
XM_011536618.2:c.1199T>C	XP_011534920.1:p.Leu400Pro
NM_000153.4:c.1367T>C MANE Select	NP_000144.2:p.Leu456Pro
NM_001201401.2:c.1298T>C	NP_001188330.1:p.Leu433Pro
NM_001201402.2:c.1289T>C	NP_001188331.1:p.Leu430Pro