Canonical Allele Identifier: CA390747704

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88434688T>A (hg19) ; chr14:g.87968344T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968344T>A , CM000676.2:g.87968344T>A	GRCh38
NC_000014.8:g.88434688T>A , CM000676.1:g.88434688T>A	GRCh37
NC_000014.7:g.87504441T>A	NCBI36
NG_011853.2:g.30220A>T
NG_011853.3:g.30220A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.899A>T MANE Select	ENSP00000261304.2:p.Tyr300Phe
ENST00000261304.6:c.899A>T	ENSP00000261304.2:p.Tyr300Phe
ENST00000393568.8:c.830A>T	ENSP00000377198.4:p.Tyr277Phe
ENST00000393569.6:c.821A>T	ENSP00000377199.2:p.Tyr274Phe
ENST00000474294.6:n.889A>T
ENST00000544807.6:c.731A>T	ENSP00000437513.2:p.Tyr244Phe
ENST00000555000.5:c.266A>T	ENSP00000450472.1:p.Tyr89Phe
ENST00000557316.5:c.*297A>T	ENSP00000452314.1:n.*297A>T
ENST00000622264.4:c.889A>T
NM_000153.3:c.899A>T	NP_000144.2:p.Tyr300Phe
NM_001201401.1:c.830A>T	NP_001188330.1:p.Tyr277Phe
NM_001201402.1:c.821A>T	NP_001188331.1:p.Tyr274Phe
XM_011536618.1:c.731A>T	XP_011534920.1:p.Tyr244Phe
XM_011536618.2:c.731A>T	XP_011534920.1:p.Tyr244Phe
NM_000153.4:c.899A>T MANE Select	NP_000144.2:p.Tyr300Phe
NM_001201401.2:c.830A>T	NP_001188330.1:p.Tyr277Phe
NM_001201402.2:c.821A>T	NP_001188331.1:p.Tyr274Phe