Canonical Allele Identifier: CA380202921

Gene: SLC35C1

Linked Data

• ClinVar Variation Id: 1476369
• ClinVar RCV Id: RCV001977917
• dbSNP Id: rs1183848479
• gnomAD v2: 11-45827762-A-C
• gnomAD v3: 11-45806211-A-C
• gnomAD v4: 11-45806211-A-C
• MyVariant Identifiers: chr11:g.45827762A>C (hg19) ; chr11:g.45806211A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45806211A>C , CM000673.2:g.45806211A>C	GRCh38
NC_000011.9:g.45827762A>C , CM000673.1:g.45827762A>C	GRCh37
NC_000011.8:g.45784338A>C	NCBI36
NG_009875.1:g.7140A>C , LRG_107:g.7140A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000526817.2:c.371A>C	ENSP00000432145.2:p.Tyr124Ser
ENST00000314134.4:c.410A>C MANE Select	ENSP00000313318.3:p.Tyr137Ser
ENST00000314134.3:c.410A>C	ENSP00000313318.3:p.Tyr137Ser
ENST00000442528.2:c.371A>C	ENSP00000412408.2:p.Tyr124Ser
ENST00000530471.1:c.371A>C	ENSP00000432669.1:p.Tyr124Ser
NM_001145265.1:c.371A>C	NP_001138737.1:p.Tyr124Ser
NM_001145266.1:c.371A>C	NP_001138738.1:p.Tyr124Ser
NM_018389.4:c.410A>C , LRG_107t1:c.410A>C	NP_060859.4:p.Tyr137Ser
XM_011520203.1:c.410A>C	XP_011518505.1:p.Tyr137Ser
XM_011520203.3:c.410A>C	XP_011518505.1:p.Tyr137Ser
NM_001145265.2:c.371A>C	NP_001138737.1:p.Tyr124Ser
NM_018389.5:c.410A>C MANE Select	NP_060859.4:p.Tyr137Ser