Canonical Allele Identifier: CA1685978840
Gene: C1GALT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7233936G= , CM000669.2:g.7233936G= GRCh38
NC_000007.13:g.7273567G= , CM000669.1:g.7273567G= GRCh37
NC_000007.12:g.7240092G= NCBI36
NG_027732.1:g.56322G=

Transcript Alleles

HGVS Amino-acid change
ENST00000436587.7:c.-17-367G= MANE Select ENSP00000389176.2:n.-17-367G=
ENST00000419721.5:c.-17-367G= ENSP00000415400.1:n.-17-367G=
ENST00000429911.5:c.-17-367G= ENSP00000407666.1:n.-17-367G=
ENST00000436587.6:c.-17-367G= ENSP00000389176.2:n.-17-367G=
ENST00000476068.1:n.192-367G=
NM_020156.4:c.-17-367G= NP_064541.1:n.-17-367G=
XM_005249812.1:c.8-367G= XP_005249869.1:n.8-367G=
XM_011515453.1:c.-17-367G= XP_011513755.1:n.-17-367G=
XM_011515454.1:c.-17-367G= XP_011513756.1:n.-17-367G=
XM_011515455.1:c.-17-367G= XP_011513757.1:n.-17-367G=
XM_011515456.1:c.-17-367G= XP_011513758.1:n.-17-367G=
XM_011515453.2:c.-17-367G= XP_011513755.1:n.-17-367G=
XM_011515455.2:c.-17-367G= XP_011513757.1:n.-17-367G=
XM_011515456.2:c.-17-367G= XP_011513758.1:n.-17-367G=
XM_017012442.1:c.-17-367G= XP_016867931.1:n.-17-367G=
XM_017012444.1:c.-17-367G= XP_016867933.1:n.-17-367G=
XM_017012445.1:c.-17-367G= XP_016867934.1:n.-17-367G=
XM_017012446.1:c.-17-367G= XP_016867935.1:n.-17-367G=
XM_017012447.1:c.-17-367G= XP_016867936.1:n.-17-367G=
XM_017012448.1:c.-17-367G= XP_016867937.1:n.-17-367G=
XM_024446838.1:c.-17-367G= XP_024302606.1:n.-17-367G=
NM_020156.5:c.-17-367G= MANE Select NP_064541.1:n.-17-367G=