Canonical Allele Identifier: CA130370
Gene: C1GALT1C1 HGNC NCBI

Linked Data

ClinVar Variation Id: 39574
ClinVar RCV Id: RCV000032774
dbSNP Id: rs587776928

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120627164C>G , CM000685.2:g.120627164C>G GRCh38
NC_000023.10:g.119761019C>G , CM000685.1:g.119761019C>G GRCh37
NC_000023.9:g.119645047C>G NCBI36
NG_016219.1:g.7987G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304661.6:c.3G>C MANE Select ENSP00000304364.5:p.Met1Ile
ENST00000304661.5:c.3G>C ENSP00000304364.5:p.Met1Ile
ENST00000371313.2:c.3G>C ENSP00000360363.2:p.Met1Ile
NM_001011551.2:c.3G>C NP_001011551.1:p.Met1Ile
NM_152692.4:c.3G>C NP_689905.1:p.Met1Ile
NM_001011551.3:c.3G>C MANE Select NP_001011551.1:p.Met1Ile
NM_152692.5:c.3G>C NP_689905.1:p.Met1Ile