Canonical Allele Identifier: CA380202808

Gene: SLC35C1

Linked Data

• dbSNP Id: rs1249225084
• gnomAD v2: 11-45827708-C-T
• MyVariant Identifiers: chr11:g.45827708C>T (hg19) ; chr11:g.45806157C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45806157C>T , CM000673.2:g.45806157C>T	GRCh38
NC_000011.9:g.45827708C>T , CM000673.1:g.45827708C>T	GRCh37
NC_000011.8:g.45784284C>T	NCBI36
NG_009875.1:g.7086C>T , LRG_107:g.7086C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.317C>T	ENSP00000432145.2:p.Pro106Leu
ENST00000314134.4:c.356C>T MANE Select	ENSP00000313318.3:p.Pro119Leu
ENST00000314134.3:c.356C>T	ENSP00000313318.3:p.Pro119Leu
ENST00000442528.2:c.317C>T	ENSP00000412408.2:p.Pro106Leu
ENST00000530471.1:c.317C>T	ENSP00000432669.1:p.Pro106Leu
NM_001145265.1:c.317C>T	NP_001138737.1:p.Pro106Leu
NM_001145266.1:c.317C>T	NP_001138738.1:p.Pro106Leu
NM_018389.4:c.356C>T , LRG_107t1:c.356C>T	NP_060859.4:p.Pro119Leu
XM_011520203.1:c.356C>T	XP_011518505.1:p.Pro119Leu
XM_011520203.3:c.356C>T	XP_011518505.1:p.Pro119Leu
NM_001145265.2:c.317C>T	NP_001138737.1:p.Pro106Leu
NM_018389.5:c.356C>T MANE Select	NP_060859.4:p.Pro119Leu