Canonical Allele Identifier: CA7297269

Gene: GALC

Linked Data

• ClinVar Variation Id: 765993
• ClinVar RCV Id: RCV000944474
• dbSNP Id: rs748497197
• ExAC: 14:88442740 G / A
• gnomAD v2: 14-88442740-G-A
• gnomAD v3: 14-87976396-G-A
• gnomAD v4: 14-87976396-G-A
• MyVariant Identifiers: chr14:g.88442740G>A (hg19) ; chr14:g.87976396G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976396G>A , CM000676.2:g.87976396G>A	GRCh38
NC_000014.8:g.88442740G>A , CM000676.1:g.88442740G>A	GRCh37
NC_000014.7:g.87512493G>A	NCBI36
NG_011853.2:g.22168C>T
NG_011853.3:g.22168C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.714C>T MANE Select	ENSP00000261304.2:p.Leu238=
ENST00000261304.6:c.714C>T	ENSP00000261304.2:p.Leu238=
ENST00000393568.8:c.645C>T	ENSP00000377198.4:p.Leu215=
ENST00000393569.6:c.636C>T	ENSP00000377199.2:p.Leu212=
ENST00000474294.6:n.704C>T
ENST00000477716.3:n.469C>T
ENST00000544807.6:c.546C>T	ENSP00000437513.2:p.Leu182=
ENST00000554916.5:n.593C>T
ENST00000555000.5:c.81C>T	ENSP00000450472.1:p.Leu27=
ENST00000557316.5:c.*112C>T	ENSP00000452314.1:n.*112C>T
ENST00000622264.4:c.704C>T
NM_000153.3:c.714C>T	NP_000144.2:p.Leu238=
NM_001201401.1:c.645C>T	NP_001188330.1:p.Leu215=
NM_001201402.1:c.636C>T	NP_001188331.1:p.Leu212=
XM_011536618.1:c.546C>T	XP_011534920.1:p.Leu182=
XM_011536618.2:c.546C>T	XP_011534920.1:p.Leu182=
NM_000153.4:c.714C>T MANE Select	NP_000144.2:p.Leu238=
NM_001201401.2:c.645C>T	NP_001188330.1:p.Leu215=
NM_001201402.2:c.636C>T	NP_001188331.1:p.Leu212=