Canonical Allele Identifier: CA380202686

Gene: SLC35C1

Linked Data

• gnomAD v4: 11-45806097-C-A
• MyVariant Identifiers: chr11:g.45827648C>A (hg19) ; chr11:g.45806097C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45806097C>A , CM000673.2:g.45806097C>A	GRCh38
NC_000011.9:g.45827648C>A , CM000673.1:g.45827648C>A	GRCh37
NC_000011.8:g.45784224C>A	NCBI36
NG_009875.1:g.7026C>A , LRG_107:g.7026C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.257C>A	ENSP00000432145.2:p.Pro86His
ENST00000314134.4:c.296C>A MANE Select	ENSP00000313318.3:p.Pro99His
ENST00000314134.3:c.296C>A	ENSP00000313318.3:p.Pro99His
ENST00000442528.2:c.257C>A	ENSP00000412408.2:p.Pro86His
ENST00000530471.1:c.257C>A	ENSP00000432669.1:p.Pro86His
NM_001145265.1:c.257C>A	NP_001138737.1:p.Pro86His
NM_001145266.1:c.257C>A	NP_001138738.1:p.Pro86His
NM_018389.4:c.296C>A , LRG_107t1:c.296C>A	NP_060859.4:p.Pro99His
XM_011520203.1:c.296C>A	XP_011518505.1:p.Pro99His
XM_011520203.3:c.296C>A	XP_011518505.1:p.Pro99His
NM_001145265.2:c.257C>A	NP_001138737.1:p.Pro86His
NM_018389.5:c.296C>A MANE Select	NP_060859.4:p.Pro99His