Canonical Allele Identifier: CA7297196

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965611T>G , CM000676.2:g.87965611T>G	GRCh38
NC_000014.8:g.88431955T>G , CM000676.1:g.88431955T>G	GRCh37
NC_000014.7:g.87501708T>G	NCBI36
NG_011853.2:g.32953A>C
NG_011853.3:g.32953A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.927A>C MANE Select	NP_000144.2:p.Leu309Phe
ENST00000261304.7:c.927A>C MANE Select	ENSP00000261304.2:p.Leu309Phe
NM_000153.3:c.927A>C	NP_000144.2:p.Leu309Phe
NM_001201401.1:c.858A>C	NP_001188330.1:p.Leu286Phe
NM_001201401.2:c.858A>C	NP_001188330.1:p.Leu286Phe
NM_001201402.1:c.849A>C	NP_001188331.1:p.Leu283Phe
NM_001201402.2:c.849A>C	NP_001188331.1:p.Leu283Phe
ENST00000261304.6:c.927A>C	ENSP00000261304.2:p.Leu309Phe
ENST00000393568.8:c.858A>C	ENSP00000377198.4:p.Leu286Phe
ENST00000393569.6:c.849A>C	ENSP00000377199.2:p.Leu283Phe
ENST00000474294.6:n.917A>C
ENST00000544807.6:c.759A>C	ENSP00000437513.2:p.Leu253Phe
ENST00000555000.5:c.294A>C	ENSP00000450472.1:p.Leu98Phe
ENST00000557316.5:c.*325A>C	ENSP00000452314.1:n.*325A>C
ENST00000557520.1:n.13A>C
ENST00000622264.4:c.917A>C
XM_011536618.1:c.759A>C	XP_011534920.1:p.Leu253Phe
XM_011536618.2:c.759A>C	XP_011534920.1:p.Leu253Phe