Canonical Allele Identifier: CA390749400

Gene: GALC

Linked Data

• dbSNP Id: rs1886492795
• gnomAD v4: 14-87976394-A-G
• MyVariant Identifiers: chr14:g.88442738A>G (hg19) ; chr14:g.87976394A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976394A>G , CM000676.2:g.87976394A>G	GRCh38
NC_000014.8:g.88442738A>G , CM000676.1:g.88442738A>G	GRCh37
NC_000014.7:g.87512491A>G	NCBI36
NG_011853.2:g.22170T>C
NG_011853.3:g.22170T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.716T>C MANE Select	ENSP00000261304.2:p.Leu239Pro
ENST00000261304.6:c.716T>C	ENSP00000261304.2:p.Leu239Pro
ENST00000393568.8:c.647T>C	ENSP00000377198.4:p.Leu216Pro
ENST00000393569.6:c.638T>C	ENSP00000377199.2:p.Leu213Pro
ENST00000474294.6:n.706T>C
ENST00000477716.3:n.471T>C
ENST00000544807.6:c.548T>C	ENSP00000437513.2:p.Leu183Pro
ENST00000554916.5:n.595T>C
ENST00000555000.5:c.83T>C	ENSP00000450472.1:p.Leu28Pro
ENST00000557316.5:c.*114T>C	ENSP00000452314.1:n.*114T>C
ENST00000622264.4:c.706T>C
NM_000153.3:c.716T>C	NP_000144.2:p.Leu239Pro
NM_001201401.1:c.647T>C	NP_001188330.1:p.Leu216Pro
NM_001201402.1:c.638T>C	NP_001188331.1:p.Leu213Pro
XM_011536618.1:c.548T>C	XP_011534920.1:p.Leu183Pro
XM_011536618.2:c.548T>C	XP_011534920.1:p.Leu183Pro
NM_000153.4:c.716T>C MANE Select	NP_000144.2:p.Leu239Pro
NM_001201401.2:c.647T>C	NP_001188330.1:p.Leu216Pro
NM_001201402.2:c.638T>C	NP_001188331.1:p.Leu213Pro