Canonical Allele Identifier: CA390746420

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88414096T>A (hg19) ; chr14:g.87947752T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947752T>A , CM000676.2:g.87947752T>A	GRCh38
NC_000014.8:g.88414096T>A , CM000676.1:g.88414096T>A	GRCh37
NC_000014.7:g.87483849T>A	NCBI36
NG_011853.2:g.50812A>T
NG_011853.3:g.50812A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1465A>T MANE Select	ENSP00000261304.2:p.Thr489Ser
ENST00000261304.6:c.1465A>T	ENSP00000261304.2:p.Thr489Ser
ENST00000393568.8:c.1396A>T	ENSP00000377198.4:p.Thr466Ser
ENST00000393569.6:c.1387A>T	ENSP00000377199.2:p.Thr463Ser
ENST00000544807.6:c.1297A>T	ENSP00000437513.2:p.Thr433Ser
ENST00000555000.5:c.832A>T	ENSP00000450472.1:p.Thr278Ser
ENST00000555179.1:c.182A>T
ENST00000557316.5:c.*863A>T	ENSP00000452314.1:n.*863A>T
NM_000153.3:c.1465A>T	NP_000144.2:p.Thr489Ser
NM_001201401.1:c.1396A>T	NP_001188330.1:p.Thr466Ser
NM_001201402.1:c.1387A>T	NP_001188331.1:p.Thr463Ser
XM_011536618.1:c.1297A>T	XP_011534920.1:p.Thr433Ser
XM_011536618.2:c.1297A>T	XP_011534920.1:p.Thr433Ser
NM_000153.4:c.1465A>T MANE Select	NP_000144.2:p.Thr489Ser
NM_001201401.2:c.1396A>T	NP_001188330.1:p.Thr466Ser
NM_001201402.2:c.1387A>T	NP_001188331.1:p.Thr463Ser