Canonical Allele Identifier: CA487355628

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947774T>C , CM000676.2:g.87947774T>C	GRCh38
NC_000014.8:g.88414118T>C , CM000676.1:g.88414118T>C	GRCh37
NC_000014.7:g.87483871T>C	NCBI36
NG_011853.2:g.50790A>G
NG_011853.3:g.50790A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1443A>G MANE Select	NP_000144.2:p.Pro481=
ENST00000261304.7:c.1443A>G MANE Select	ENSP00000261304.2:p.Pro481=
NM_000153.3:c.1443A>G	NP_000144.2:p.Pro481=
NM_001201401.1:c.1374A>G	NP_001188330.1:p.Pro458=
NM_001201401.2:c.1374A>G	NP_001188330.1:p.Pro458=
NM_001201402.1:c.1365A>G	NP_001188331.1:p.Pro455=
NM_001201402.2:c.1365A>G	NP_001188331.1:p.Pro455=
ENST00000261304.6:c.1443A>G	ENSP00000261304.2:p.Pro481=
ENST00000393568.8:c.1374A>G	ENSP00000377198.4:p.Pro458=
ENST00000393569.6:c.1365A>G	ENSP00000377199.2:p.Pro455=
ENST00000544807.6:c.1275A>G	ENSP00000437513.2:p.Pro425=
ENST00000555000.5:c.810A>G	ENSP00000450472.1:p.Pro270=
ENST00000555179.1:c.160A>G
ENST00000557316.5:c.*841A>G	ENSP00000452314.1:n.*841A>G
XM_011536618.1:c.1275A>G	XP_011534920.1:p.Pro425=
XM_011536618.2:c.1275A>G	XP_011534920.1:p.Pro425=