Canonical Allele Identifier: CA390746311

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88412062C>A (hg19) ; chr14:g.87945718C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945718C>A , CM000676.2:g.87945718C>A	GRCh38
NC_000014.8:g.88412062C>A , CM000676.1:g.88412062C>A	GRCh37
NC_000014.7:g.87481815C>A	NCBI36
NG_011853.2:g.52846G>T
NG_011853.3:g.52846G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1505G>T MANE Select	ENSP00000261304.2:p.Ser502Ile
ENST00000261304.6:c.1505G>T	ENSP00000261304.2:p.Ser502Ile
ENST00000393568.8:c.1436G>T	ENSP00000377198.4:p.Ser479Ile
ENST00000393569.6:c.1427G>T	ENSP00000377199.2:p.Ser476Ile
ENST00000544807.6:c.1337G>T	ENSP00000437513.2:p.Ser446Ile
ENST00000555000.5:c.872G>T	ENSP00000450472.1:p.Ser291Ile
ENST00000555179.1:c.206+2010G>T
ENST00000557316.5:c.*903G>T	ENSP00000452314.1:n.*903G>T
NM_000153.3:c.1505G>T	NP_000144.2:p.Ser502Ile
NM_001201401.1:c.1436G>T	NP_001188330.1:p.Ser479Ile
NM_001201402.1:c.1427G>T	NP_001188331.1:p.Ser476Ile
XM_011536618.1:c.1337G>T	XP_011534920.1:p.Ser446Ile
XM_011536618.2:c.1337G>T	XP_011534920.1:p.Ser446Ile
NM_000153.4:c.1505G>T MANE Select	NP_000144.2:p.Ser502Ile
NM_001201401.2:c.1436G>T	NP_001188330.1:p.Ser479Ile
NM_001201402.2:c.1427G>T	NP_001188331.1:p.Ser476Ile