Canonical Allele Identifier: CA390745660

Gene: GALC

Linked Data

• gnomAD v4: 14-87941434-T-C
• MyVariant Identifiers: chr14:g.88407778T>C (hg19) ; chr14:g.87941434T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87941434T>C , CM000676.2:g.87941434T>C	GRCh38
NC_000014.8:g.88407778T>C , CM000676.1:g.88407778T>C	GRCh37
NC_000014.7:g.87477531T>C	NCBI36
NG_011853.2:g.57130A>G
NG_011853.3:g.57130A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1795A>G MANE Select	ENSP00000261304.2:p.Ile599Val
ENST00000261304.6:c.1795A>G	ENSP00000261304.2:p.Ile599Val
ENST00000393568.8:c.1726A>G	ENSP00000377198.4:p.Ile576Val
ENST00000393569.6:c.1717A>G	ENSP00000377199.2:p.Ile573Val
ENST00000544807.6:c.1627A>G	ENSP00000437513.2:p.Ile543Val
ENST00000555000.5:c.1162A>G	ENSP00000450472.1:p.Ile388Val
ENST00000555179.1:c.331A>G
ENST00000557316.5:c.*1193A>G	ENSP00000452314.1:n.*1193A>G
NM_000153.3:c.1795A>G	NP_000144.2:p.Ile599Val
NM_001201401.1:c.1726A>G	NP_001188330.1:p.Ile576Val
NM_001201402.1:c.1717A>G	NP_001188331.1:p.Ile573Val
XM_011536618.1:c.1627A>G	XP_011534920.1:p.Ile543Val
XM_011536618.2:c.1627A>G	XP_011534920.1:p.Ile543Val
NM_000153.4:c.1795A>G MANE Select	NP_000144.2:p.Ile599Val
NM_001201401.2:c.1726A>G	NP_001188330.1:p.Ile576Val
NM_001201402.2:c.1717A>G	NP_001188331.1:p.Ile573Val