Canonical Allele Identifier: CA390747138

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87963394A>G , CM000676.2:g.87963394A>G	GRCh38
NC_000014.8:g.88429738A>G , CM000676.1:g.88429738A>G	GRCh37
NC_000014.7:g.87499491A>G	NCBI36
NG_011853.2:g.35170T>C
NG_011853.3:g.35170T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1151T>C MANE Select	NP_000144.2:p.Ile384Thr
ENST00000261304.7:c.1151T>C MANE Select	ENSP00000261304.2:p.Ile384Thr
NM_000153.3:c.1151T>C	NP_000144.2:p.Ile384Thr
NM_001201401.1:c.1082T>C	NP_001188330.1:p.Ile361Thr
NM_001201401.2:c.1082T>C	NP_001188330.1:p.Ile361Thr
NM_001201402.1:c.1073T>C	NP_001188331.1:p.Ile358Thr
NM_001201402.2:c.1073T>C	NP_001188331.1:p.Ile358Thr
ENST00000261304.6:c.1151T>C	ENSP00000261304.2:p.Ile384Thr
ENST00000393568.8:c.1082T>C	ENSP00000377198.4:p.Ile361Thr
ENST00000393569.6:c.1073T>C	ENSP00000377199.2:p.Ile358Thr
ENST00000474294.6:n.1141T>C
ENST00000544807.6:c.983T>C	ENSP00000437513.2:p.Ile328Thr
ENST00000555000.5:c.518T>C	ENSP00000450472.1:p.Ile173Thr
ENST00000557316.5:c.*549T>C	ENSP00000452314.1:n.*549T>C
ENST00000557520.1:n.237T>C
ENST00000622264.4:c.1141T>C
XM_011536618.1:c.983T>C	XP_011534920.1:p.Ile328Thr
XM_011536618.2:c.983T>C	XP_011534920.1:p.Ile328Thr