Canonical Allele Identifier: CA10505937

Gene: C1GALT1C1

Linked Data

• dbSNP Id: rs756060184
• ExAC: X:119760295 T / TGTATAGGACGTGTGTTGTCA
• MyVariant Identifiers: chrX:g.119760295_119760296insGTATAGGACGTGTGTTGTCA (hg19) ; chrX:g.120626440_120626441insGTATAGGACGTGTGTTGTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120626440_120626441insGTATAGGACGTGTGTTGTCA , CM000685.2:g.120626440_120626441insGTATAGGACGTGTGTTGTCA	GRCh38
NC_000023.10:g.119760295_119760296insGTATAGGACGTGTGTTGTCA , CM000685.1:g.119760295_119760296insGTATAGGACGTGTGTTGTCA	GRCh37
NC_000023.9:g.119644323_119644324insGTATAGGACGTGTGTTGTCA	NCBI36
NG_016219.1:g.8710_8711insTGACAACACACGTCCTATAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.726_727insTGACAACACACGTCCTATAC MANE Select	ENSP00000304364.5:p.Lys243Ter
ENST00000304661.5:c.726_727insTGACAACACACGTCCTATAC	ENSP00000304364.5:p.Lys243Ter
ENST00000371313.2:c.726_727insTGACAACACACGTCCTATAC	ENSP00000360363.2:p.Lys243Ter
NM_001011551.2:c.726_727insTGACAACACACGTCCTATAC	NP_001011551.1:p.Lys243Ter
NM_152692.4:c.726_727insTGACAACACACGTCCTATAC	NP_689905.1:p.Lys243Ter
NM_001011551.3:c.726_727insTGACAACACACGTCCTATAC MANE Select	NP_001011551.1:p.Lys243Ter
NM_152692.5:c.726_727insTGACAACACACGTCCTATAC	NP_689905.1:p.Lys243Ter