Canonical Allele Identifier: CA390747696

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88434685A>T (hg19) ; chr14:g.87968341A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968341A>T , CM000676.2:g.87968341A>T	GRCh38
NC_000014.8:g.88434685A>T , CM000676.1:g.88434685A>T	GRCh37
NC_000014.7:g.87504438A>T	NCBI36
NG_011853.2:g.30223T>A
NG_011853.3:g.30223T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.902T>A MANE Select	ENSP00000261304.2:p.Met301Lys
ENST00000261304.6:c.902T>A	ENSP00000261304.2:p.Met301Lys
ENST00000393568.8:c.833T>A	ENSP00000377198.4:p.Met278Lys
ENST00000393569.6:c.824T>A	ENSP00000377199.2:p.Met275Lys
ENST00000474294.6:n.892T>A
ENST00000544807.6:c.734T>A	ENSP00000437513.2:p.Met245Lys
ENST00000555000.5:c.269T>A	ENSP00000450472.1:p.Met90Lys
ENST00000557316.5:c.*300T>A	ENSP00000452314.1:n.*300T>A
ENST00000622264.4:c.892T>A
NM_000153.3:c.902T>A	NP_000144.2:p.Met301Lys
NM_001201401.1:c.833T>A	NP_001188330.1:p.Met278Lys
NM_001201402.1:c.824T>A	NP_001188331.1:p.Met275Lys
XM_011536618.1:c.734T>A	XP_011534920.1:p.Met245Lys
XM_011536618.2:c.734T>A	XP_011534920.1:p.Met245Lys
NM_000153.4:c.902T>A MANE Select	NP_000144.2:p.Met301Lys
NM_001201401.2:c.833T>A	NP_001188330.1:p.Met278Lys
NM_001201402.2:c.824T>A	NP_001188331.1:p.Met275Lys