Canonical Allele Identifier: CA7297268

Gene: GALC

Linked Data

• ClinVar Variation Id: 1099706
• ClinVar RCV Id: RCV001422097 ; RCV003965793
• dbSNP Id: rs778552414
• ExAC: 14:88442731 G / A
• gnomAD v2: 14-88442731-G-A
• gnomAD v3: 14-87976387-G-A
• gnomAD v4: 14-87976387-G-A
• MyVariant Identifiers: chr14:g.88442731G>A (hg19) ; chr14:g.87976387G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976387G>A , CM000676.2:g.87976387G>A	GRCh38
NC_000014.8:g.88442731G>A , CM000676.1:g.88442731G>A	GRCh37
NC_000014.7:g.87512484G>A	NCBI36
NG_011853.2:g.22177C>T
NG_011853.3:g.22177C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.723C>T MANE Select	ENSP00000261304.2:p.Ala241=
ENST00000261304.6:c.723C>T	ENSP00000261304.2:p.Ala241=
ENST00000393568.8:c.654C>T	ENSP00000377198.4:p.Ala218=
ENST00000393569.6:c.645C>T	ENSP00000377199.2:p.Ala215=
ENST00000474294.6:n.713C>T
ENST00000477716.3:n.478C>T
ENST00000544807.6:c.555C>T	ENSP00000437513.2:p.Ala185=
ENST00000554916.5:n.602C>T
ENST00000555000.5:c.90C>T	ENSP00000450472.1:p.Ala30=
ENST00000557316.5:c.*121C>T	ENSP00000452314.1:n.*121C>T
ENST00000622264.4:c.713C>T
NM_000153.3:c.723C>T	NP_000144.2:p.Ala241=
NM_001201401.1:c.654C>T	NP_001188330.1:p.Ala218=
NM_001201402.1:c.645C>T	NP_001188331.1:p.Ala215=
XM_011536618.1:c.555C>T	XP_011534920.1:p.Ala185=
XM_011536618.2:c.555C>T	XP_011534920.1:p.Ala185=
NM_000153.4:c.723C>T MANE Select	NP_000144.2:p.Ala241=
NM_001201401.2:c.654C>T	NP_001188330.1:p.Ala218=
NM_001201402.2:c.645C>T	NP_001188331.1:p.Ala215=