Canonical Allele Identifier: CA264685920

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947939G>A , CM000676.2:g.87947939G>A	GRCh38
NC_000014.8:g.88414283G>A , CM000676.1:g.88414283G>A	GRCh37
NC_000014.7:g.87484036G>A	NCBI36
NG_011853.2:g.50625C>T
NG_011853.3:g.50625C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1339-61C>T MANE Select	NP_000144.2:n.1339-61C>T
ENST00000261304.7:c.1339-61C>T MANE Select	ENSP00000261304.2:n.1339-61C>T
NM_000153.3:c.1339-61C>T	NP_000144.2:n.1339-61C>T
NM_001201401.1:c.1270-61C>T	NP_001188330.1:n.1270-61C>T
NM_001201401.2:c.1270-61C>T	NP_001188330.1:n.1270-61C>T
NM_001201402.1:c.1261-61C>T	NP_001188331.1:n.1261-61C>T
NM_001201402.2:c.1261-61C>T	NP_001188331.1:n.1261-61C>T
ENST00000261304.6:c.1339-61C>T	ENSP00000261304.2:n.1339-61C>T
ENST00000393568.8:c.1270-61C>T	ENSP00000377198.4:n.1270-61C>T
ENST00000393569.6:c.1261-61C>T	ENSP00000377199.2:n.1261-61C>T
ENST00000544807.6:c.1171-61C>T	ENSP00000437513.2:n.1171-61C>T
ENST00000555000.5:c.706-61C>T	ENSP00000450472.1:n.706-61C>T
ENST00000555179.1:c.56-61C>T
ENST00000557316.5:c.*737-61C>T	ENSP00000452314.1:n.*737-61C>T
XM_011536618.1:c.1171-61C>T	XP_011534920.1:n.1171-61C>T
XM_011536618.2:c.1171-61C>T	XP_011534920.1:n.1171-61C>T