Canonical Allele Identifier: CA390747510

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965556G>A , CM000676.2:g.87965556G>A	GRCh38
NC_000014.8:g.88431900G>A , CM000676.1:g.88431900G>A	GRCh37
NC_000014.7:g.87501653G>A	NCBI36
NG_011853.2:g.33008C>T
NG_011853.3:g.33008C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.982C>T MANE Select	NP_000144.2:p.Gln328Ter
ENST00000261304.7:c.982C>T MANE Select	ENSP00000261304.2:p.Gln328Ter
NM_000153.3:c.982C>T	NP_000144.2:p.Gln328Ter
NM_001201401.1:c.913C>T	NP_001188330.1:p.Gln305Ter
NM_001201401.2:c.913C>T	NP_001188330.1:p.Gln305Ter
NM_001201402.1:c.904C>T	NP_001188331.1:p.Gln302Ter
NM_001201402.2:c.904C>T	NP_001188331.1:p.Gln302Ter
ENST00000261304.6:c.982C>T	ENSP00000261304.2:p.Gln328Ter
ENST00000393568.8:c.913C>T	ENSP00000377198.4:p.Gln305Ter
ENST00000393569.6:c.904C>T	ENSP00000377199.2:p.Gln302Ter
ENST00000474294.6:n.972C>T
ENST00000544807.6:c.814C>T	ENSP00000437513.2:p.Gln272Ter
ENST00000555000.5:c.349C>T	ENSP00000450472.1:p.Gln117Ter
ENST00000557316.5:c.*380C>T	ENSP00000452314.1:n.*380C>T
ENST00000557520.1:n.68C>T
ENST00000622264.4:c.972C>T
XM_011536618.1:c.814C>T	XP_011534920.1:p.Gln272Ter
XM_011536618.2:c.814C>T	XP_011534920.1:p.Gln272Ter