Canonical Allele Identifier: CA10506001
Gene: C1GALT1C1 HGNC NCBI

Linked Data

dbSNP Id: rs772296238

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627071A>G , CM000685.2:g.120627071A>G GRCh38
NC_000023.10:g.119760926A>G , CM000685.1:g.119760926A>G GRCh37
NC_000023.9:g.119644954A>G NCBI36
NG_016219.1:g.8080T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.96T>C MANE Select ENSP00000304364.5:p.His32=
ENST00000304661.5:c.96T>C ENSP00000304364.5:p.His32=
ENST00000371313.2:c.96T>C ENSP00000360363.2:p.His32=
NM_001011551.2:c.96T>C NP_001011551.1:p.His32=
NM_152692.4:c.96T>C NP_689905.1:p.His32=
NM_001011551.3:c.96T>C MANE Select NP_001011551.1:p.His32=
NM_152692.5:c.96T>C NP_689905.1:p.His32=