Canonical Allele Identifier: CA2454930823
Gene: C1GALT1C1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120626699A= , CM000685.2:g.120626699A= GRCh38
NC_000023.10:g.119760554A= , CM000685.1:g.119760554A= GRCh37
NC_000023.9:g.119644582A= NCBI36
NG_016219.1:g.8452T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.468T= MANE Select ENSP00000304364.5:p.Tyr156=
ENST00000304661.5:c.468T= ENSP00000304364.5:p.Tyr156=
ENST00000371313.2:c.468T= ENSP00000360363.2:p.Tyr156=
NM_001011551.2:c.468T= NP_001011551.1:p.Tyr156=
NM_152692.4:c.468T= NP_689905.1:p.Tyr156=
NM_001011551.3:c.468T= MANE Select NP_001011551.1:p.Tyr156=
NM_152692.5:c.468T= NP_689905.1:p.Tyr156=