Canonical Allele Identifier: CA221585081

Gene: SLC35C1

Linked Data

• dbSNP Id: rs554958653
• gnomAD v3: 11-45806001-C-G
• gnomAD v4: 11-45806001-C-G
• MyVariant Identifiers: chr11:g.45827552C>G (hg19) ; chr11:g.45806001C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45806001C>G , CM000673.2:g.45806001C>G	GRCh38
NC_000011.9:g.45827552C>G , CM000673.1:g.45827552C>G	GRCh37
NC_000011.8:g.45784128C>G	NCBI36
NG_009875.1:g.6930C>G , LRG_107:g.6930C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.161C>G	ENSP00000432145.2:p.Ser54Cys
ENST00000314134.4:c.200C>G MANE Select	ENSP00000313318.3:p.Ser67Cys
ENST00000314134.3:c.200C>G	ENSP00000313318.3:p.Ser67Cys
ENST00000442528.2:c.161C>G	ENSP00000412408.2:p.Ser54Cys
ENST00000526817.1:c.161C>G	ENSP00000432145.1:p.Ser54Cys
ENST00000530471.1:c.161C>G	ENSP00000432669.1:p.Ser54Cys
NM_001145265.1:c.161C>G	NP_001138737.1:p.Ser54Cys
NM_001145266.1:c.161C>G	NP_001138738.1:p.Ser54Cys
NM_018389.4:c.200C>G , LRG_107t1:c.200C>G	NP_060859.4:p.Ser67Cys
XM_011520203.1:c.200C>G	XP_011518505.1:p.Ser67Cys
XM_011520203.3:c.200C>G	XP_011518505.1:p.Ser67Cys
NM_001145265.2:c.161C>G	NP_001138737.1:p.Ser54Cys
NM_018389.5:c.200C>G MANE Select	NP_060859.4:p.Ser67Cys