Canonical Allele Identifier: CA15484554
Gene: C1GALT1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10259085

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7228800C>T , CM000669.2:g.7228800C>T GRCh38
NC_000007.12:g.7234956C>T NCBI36
NC_000007.13:g.7268431C>T , CM000669.1:g.7268431C>T GRCh37
NG_027732.1:g.51186C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000419721.5:c.-17-5503C>T ENSP00000415400.1:p.=
ENST00000429911.5:c.-17-5503C>T ENSP00000407666.1:p.=
ENST00000436587.6:c.-17-5503C>T ENSP00000389176.2:p.=
ENST00000476068.1:n.192-5503C>T
NM_020156.4:c.-17-5503C>T NP_064541.1:p.=
XM_005249812.1:c.8-5503C>T XP_005249869.1:p.=
XM_011515453.1:c.-17-5503C>T XP_011513755.1:p.=
XM_011515454.1:c.-17-5503C>T XP_011513756.1:p.=
XM_011515455.1:c.-17-5503C>T XP_011513757.1:p.=
XM_011515456.1:c.-17-5503C>T XP_011513758.1:p.=