Canonical Allele Identifier: CA390745533

Gene: GALC

Linked Data

• gnomAD v4: 14-87939969-A-C
• MyVariant Identifiers: chr14:g.88406313A>C (hg19) ; chr14:g.87939969A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939969A>C , CM000676.2:g.87939969A>C	GRCh38
NC_000014.8:g.88406313A>C , CM000676.1:g.88406313A>C	GRCh37
NC_000014.7:g.87476066A>C	NCBI36
NG_011853.2:g.58595T>G
NG_011853.3:g.58595T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1847T>G MANE Select	ENSP00000261304.2:p.Ile616Arg
ENST00000261304.6:c.1847T>G	ENSP00000261304.2:p.Ile616Arg
ENST00000393568.8:c.1778T>G	ENSP00000377198.4:p.Ile593Arg
ENST00000393569.6:c.1769T>G	ENSP00000377199.2:p.Ile590Arg
ENST00000544807.6:c.1679T>G	ENSP00000437513.2:p.Ile560Arg
ENST00000555000.5:c.1214T>G	ENSP00000450472.1:p.Ile405Arg
ENST00000555179.1:c.383T>G
NM_000153.3:c.1847T>G	NP_000144.2:p.Ile616Arg
NM_001201401.1:c.1778T>G	NP_001188330.1:p.Ile593Arg
NM_001201402.1:c.1769T>G	NP_001188331.1:p.Ile590Arg
XM_011536618.1:c.1679T>G	XP_011534920.1:p.Ile560Arg
XM_011536618.2:c.1679T>G	XP_011534920.1:p.Ile560Arg
NM_000153.4:c.1847T>G MANE Select	NP_000144.2:p.Ile616Arg
NM_001201401.2:c.1778T>G	NP_001188330.1:p.Ile593Arg
NM_001201402.2:c.1769T>G	NP_001188331.1:p.Ile590Arg