Canonical Allele Identifier: CA390746078

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88411957C>A (hg19) ; chr14:g.87945613C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945613C>A , CM000676.2:g.87945613C>A	GRCh38
NC_000014.8:g.88411957C>A , CM000676.1:g.88411957C>A	GRCh37
NC_000014.7:g.87481710C>A	NCBI36
NG_011853.2:g.52951G>T
NG_011853.3:g.52951G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1610G>T MANE Select	ENSP00000261304.2:p.Arg537Ile
ENST00000261304.6:c.1610G>T	ENSP00000261304.2:p.Arg537Ile
ENST00000393568.8:c.1541G>T	ENSP00000377198.4:p.Arg514Ile
ENST00000393569.6:c.1532G>T	ENSP00000377199.2:p.Arg511Ile
ENST00000544807.6:c.1442G>T	ENSP00000437513.2:p.Arg481Ile
ENST00000555000.5:c.977G>T	ENSP00000450472.1:p.Arg326Ile
ENST00000555179.1:c.206+2115G>T
ENST00000557316.5:c.*1008G>T	ENSP00000452314.1:n.*1008G>T
NM_000153.3:c.1610G>T	NP_000144.2:p.Arg537Ile
NM_001201401.1:c.1541G>T	NP_001188330.1:p.Arg514Ile
NM_001201402.1:c.1532G>T	NP_001188331.1:p.Arg511Ile
XM_011536618.1:c.1442G>T	XP_011534920.1:p.Arg481Ile
XM_011536618.2:c.1442G>T	XP_011534920.1:p.Arg481Ile
NM_000153.4:c.1610G>T MANE Select	NP_000144.2:p.Arg537Ile
NM_001201401.2:c.1541G>T	NP_001188330.1:p.Arg514Ile
NM_001201402.2:c.1532G>T	NP_001188331.1:p.Arg511Ile