Canonical Allele Identifier: CA390745306

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934841A>G , CM000676.2:g.87934841A>G	GRCh38
NC_000014.8:g.88401185A>G , CM000676.1:g.88401185A>G	GRCh37
NC_000014.7:g.87470938A>G	NCBI36
NG_011853.2:g.63723T>C
NG_011853.3:g.63723T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1949T>C MANE Select	NP_000144.2:p.Leu650Pro
ENST00000261304.7:c.1949T>C MANE Select	ENSP00000261304.2:p.Leu650Pro
NM_000153.3:c.1949T>C	NP_000144.2:p.Leu650Pro
NM_001201401.1:c.1880T>C	NP_001188330.1:p.Leu627Pro
NM_001201401.2:c.1880T>C	NP_001188330.1:p.Leu627Pro
NM_001201402.1:c.1871T>C	NP_001188331.1:p.Leu624Pro
NM_001201402.2:c.1871T>C	NP_001188331.1:p.Leu624Pro
ENST00000261304.6:c.1949T>C	ENSP00000261304.2:p.Leu650Pro
ENST00000393568.8:c.1880T>C	ENSP00000377198.4:p.Leu627Pro
ENST00000393569.6:c.1871T>C	ENSP00000377199.2:p.Leu624Pro
ENST00000544807.6:c.1744-842T>C	ENSP00000437513.2:n.1744-842T>C
ENST00000555000.5:c.1279-842T>C	ENSP00000450472.1:n.1279-842T>C
ENST00000555179.1:c.485T>C
XM_011536618.1:c.1781T>C	XP_011534920.1:p.Leu594Pro
XM_011536618.2:c.1781T>C	XP_011534920.1:p.Leu594Pro