Canonical Allele Identifier: CA390747566

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965582T>A , CM000676.2:g.87965582T>A	GRCh38
NC_000014.8:g.88431926T>A , CM000676.1:g.88431926T>A	GRCh37
NC_000014.7:g.87501679T>A	NCBI36
NG_011853.2:g.32982A>T
NG_011853.3:g.32982A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.956A>T MANE Select	NP_000144.2:p.Tyr319Phe
ENST00000261304.7:c.956A>T MANE Select	ENSP00000261304.2:p.Tyr319Phe
NM_000153.3:c.956A>T	NP_000144.2:p.Tyr319Phe
NM_001201401.1:c.887A>T	NP_001188330.1:p.Tyr296Phe
NM_001201401.2:c.887A>T	NP_001188330.1:p.Tyr296Phe
NM_001201402.1:c.878A>T	NP_001188331.1:p.Tyr293Phe
NM_001201402.2:c.878A>T	NP_001188331.1:p.Tyr293Phe
ENST00000261304.6:c.956A>T	ENSP00000261304.2:p.Tyr319Phe
ENST00000393568.8:c.887A>T	ENSP00000377198.4:p.Tyr296Phe
ENST00000393569.6:c.878A>T	ENSP00000377199.2:p.Tyr293Phe
ENST00000474294.6:n.946A>T
ENST00000544807.6:c.788A>T	ENSP00000437513.2:p.Tyr263Phe
ENST00000555000.5:c.323A>T	ENSP00000450472.1:p.Tyr108Phe
ENST00000557316.5:c.*354A>T	ENSP00000452314.1:n.*354A>T
ENST00000557520.1:n.42A>T
ENST00000622264.4:c.946A>T
XM_011536618.1:c.788A>T	XP_011534920.1:p.Tyr263Phe
XM_011536618.2:c.788A>T	XP_011534920.1:p.Tyr263Phe