Canonical Allele Identifier: CA5958256

Gene: SLC35C1

Linked Data

• dbSNP Id: rs763422726
• ExAC: 11:45827865 G / A
• gnomAD v2: 11-45827865-G-A
• gnomAD v4: 11-45806314-G-A
• MyVariant Identifiers: chr11:g.45827865G>A (hg19) ; chr11:g.45806314G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45806314G>A , CM000673.2:g.45806314G>A	GRCh38
NC_000011.9:g.45827865G>A , CM000673.1:g.45827865G>A	GRCh37
NC_000011.8:g.45784441G>A	NCBI36
NG_009875.1:g.7243G>A , LRG_107:g.7243G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000526817.2:c.474G>A	ENSP00000432145.2:p.Leu158=
ENST00000314134.4:c.513G>A MANE Select	ENSP00000313318.3:p.Leu171=
ENST00000314134.3:c.513G>A	ENSP00000313318.3:p.Leu171=
ENST00000442528.2:c.474G>A	ENSP00000412408.2:p.Leu158=
ENST00000530471.1:c.474G>A	ENSP00000432669.1:p.Leu158=
NM_001145265.1:c.474G>A	NP_001138737.1:p.Leu158=
NM_001145266.1:c.474G>A	NP_001138738.1:p.Leu158=
NM_018389.4:c.513G>A , LRG_107t1:c.513G>A	NP_060859.4:p.Leu171=
XM_011520203.1:c.513G>A	XP_011518505.1:p.Leu171=
XM_011520203.3:c.513G>A	XP_011518505.1:p.Leu171=
NM_001145265.2:c.474G>A	NP_001138737.1:p.Leu158=
NM_018389.5:c.513G>A MANE Select	NP_060859.4:p.Leu171=