Canonical Allele Identifier: CA10630909

Gene: SLC35C1

Linked Data

• ClinVar Variation Id: 304721
• ClinVar RCV Id: RCV000360022
• dbSNP Id: rs550333679
• gnomAD v2: 11-45826696-C-A
• gnomAD v3: 11-45805145-C-A
• gnomAD v4: 11-45805145-C-A
• MyVariant Identifiers: chr11:g.45826696C>A (hg19) ; chr11:g.45805145C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45805145C>A , CM000673.2:g.45805145C>A	GRCh38
NC_000011.9:g.45826696C>A , CM000673.1:g.45826696C>A	GRCh37
NC_000011.8:g.45783272C>A	NCBI36
NG_009875.1:g.6074C>A , LRG_107:g.6074C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000526817.2:c.-31-665C>A	ENSP00000432145.2:n.-31-665C>A
ENST00000314134.3:c.-657C>A	ENSP00000313318.3:n.-657C>A
ENST00000442528.2:c.-32+628C>A	ENSP00000412408.2:n.-32+628C>A
ENST00000526817.1:c.-31-665C>A	ENSP00000432145.1:n.-31-665C>A
NM_001145265.1:c.-32+628C>A	NP_001138737.1:n.-32+628C>A
NM_001145266.1:c.-31-665C>A	NP_001138738.1:n.-31-665C>A
NM_018389.4:c.-657C>A , LRG_107t1:c.-657C>A	NP_060859.4:n.-657C>A
XM_011520203.1:c.-657C>A	XP_011518505.1:n.-657C>A
XM_011520203.3:c.-657C>A	XP_011518505.1:n.-657C>A
NM_001145265.2:c.-32+628C>A	NP_001138737.1:n.-32+628C>A