Canonical Allele Identifier: CA380203127

Gene: SLC35C1

Linked Data

• MyVariant Identifiers: chr11:g.45827864T>G (hg19) ; chr11:g.45806313T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45806313T>G , CM000673.2:g.45806313T>G	GRCh38
NC_000011.9:g.45827864T>G , CM000673.1:g.45827864T>G	GRCh37
NC_000011.8:g.45784440T>G	NCBI36
NG_009875.1:g.7242T>G , LRG_107:g.7242T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.473T>G	ENSP00000432145.2:p.Leu158Arg
ENST00000314134.4:c.512T>G MANE Select	ENSP00000313318.3:p.Leu171Arg
ENST00000314134.3:c.512T>G	ENSP00000313318.3:p.Leu171Arg
ENST00000442528.2:c.473T>G	ENSP00000412408.2:p.Leu158Arg
ENST00000530471.1:c.473T>G	ENSP00000432669.1:p.Leu158Arg
NM_001145265.1:c.473T>G	NP_001138737.1:p.Leu158Arg
NM_001145266.1:c.473T>G	NP_001138738.1:p.Leu158Arg
NM_018389.4:c.512T>G , LRG_107t1:c.512T>G	NP_060859.4:p.Leu171Arg
XM_011520203.1:c.512T>G	XP_011518505.1:p.Leu171Arg
XM_011520203.3:c.512T>G	XP_011518505.1:p.Leu171Arg
NM_001145265.2:c.473T>G	NP_001138737.1:p.Leu158Arg
NM_018389.5:c.512T>G MANE Select	NP_060859.4:p.Leu171Arg