Canonical Allele Identifier: CA7297243

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968486G>A , CM000676.2:g.87968486G>A	GRCh38
NC_000014.8:g.88434830G>A , CM000676.1:g.88434830G>A	GRCh37
NC_000014.7:g.87504583G>A	NCBI36
NG_011853.2:g.30078C>T
NG_011853.3:g.30078C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.757C>T MANE Select	NP_000144.2:p.His253Tyr
ENST00000261304.7:c.757C>T MANE Select	ENSP00000261304.2:p.His253Tyr
NM_000153.3:c.757C>T	NP_000144.2:p.His253Tyr
NM_001201401.1:c.688C>T	NP_001188330.1:p.His230Tyr
NM_001201401.2:c.688C>T	NP_001188330.1:p.His230Tyr
NM_001201402.1:c.679C>T	NP_001188331.1:p.His227Tyr
NM_001201402.2:c.679C>T	NP_001188331.1:p.His227Tyr
ENST00000261304.6:c.757C>T	ENSP00000261304.2:p.His253Tyr
ENST00000393568.8:c.688C>T	ENSP00000377198.4:p.His230Tyr
ENST00000393569.6:c.679C>T	ENSP00000377199.2:p.His227Tyr
ENST00000474294.6:n.747C>T
ENST00000477716.3:n.512C>T
ENST00000544807.6:c.589C>T	ENSP00000437513.2:p.His197Tyr
ENST00000555000.5:c.124C>T	ENSP00000450472.1:p.His42Tyr
ENST00000557316.5:c.*155C>T	ENSP00000452314.1:n.*155C>T
ENST00000622264.4:c.747C>T
XM_011536618.1:c.589C>T	XP_011534920.1:p.His197Tyr
XM_011536618.2:c.589C>T	XP_011534920.1:p.His197Tyr