Canonical Allele Identifier: CA380202937

Gene: SLC35C1

Linked Data

• gnomAD v4: 11-45806217-G-T
• MyVariant Identifiers: chr11:g.45827768G>T (hg19) ; chr11:g.45806217G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45806217G>T , CM000673.2:g.45806217G>T	GRCh38
NC_000011.9:g.45827768G>T , CM000673.1:g.45827768G>T	GRCh37
NC_000011.8:g.45784344G>T	NCBI36
NG_009875.1:g.7146G>T , LRG_107:g.7146G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000526817.2:c.377G>T	ENSP00000432145.2:p.Gly126Val
ENST00000314134.4:c.416G>T MANE Select	ENSP00000313318.3:p.Gly139Val
ENST00000314134.3:c.416G>T	ENSP00000313318.3:p.Gly139Val
ENST00000442528.2:c.377G>T	ENSP00000412408.2:p.Gly126Val
ENST00000530471.1:c.377G>T	ENSP00000432669.1:p.Gly126Val
NM_001145265.1:c.377G>T	NP_001138737.1:p.Gly126Val
NM_001145266.1:c.377G>T	NP_001138738.1:p.Gly126Val
NM_018389.4:c.416G>T , LRG_107t1:c.416G>T	NP_060859.4:p.Gly139Val
XM_011520203.1:c.416G>T	XP_011518505.1:p.Gly139Val
XM_011520203.3:c.416G>T	XP_011518505.1:p.Gly139Val
NM_001145265.2:c.377G>T	NP_001138737.1:p.Gly126Val
NM_018389.5:c.416G>T MANE Select	NP_060859.4:p.Gly139Val