Canonical Allele Identifier: CA10638619

Gene: SLC35C1

Linked Data

• ClinVar Variation Id: 304733
• ClinVar RCV Id: RCV000383516
• dbSNP Id: rs564660234
• gnomAD v3: 11-45805584-G-C
• gnomAD v4: 11-45805584-G-C
• MyVariant Identifiers: chr11:g.45827135G>C (hg19) ; chr11:g.45805584G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45805584G>C , CM000673.2:g.45805584G>C	GRCh38
NC_000011.9:g.45827135G>C , CM000673.1:g.45827135G>C	GRCh37
NC_000011.8:g.45783711G>C	NCBI36
NG_009875.1:g.6513G>C , LRG_107:g.6513G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.-31-226G>C	ENSP00000432145.2:n.-31-226G>C
ENST00000314134.4:c.-218G>C MANE Select	ENSP00000313318.3:n.-218G>C
ENST00000314134.3:c.-218G>C	ENSP00000313318.3:n.-218G>C
ENST00000442528.2:c.-31-226G>C	ENSP00000412408.2:n.-31-226G>C
ENST00000526817.1:c.-31-226G>C	ENSP00000432145.1:n.-31-226G>C
ENST00000530471.1:c.-31-226G>C	ENSP00000432669.1:n.-31-226G>C
NM_001145265.1:c.-31-226G>C	NP_001138737.1:n.-31-226G>C
NM_001145266.1:c.-31-226G>C	NP_001138738.1:n.-31-226G>C
NM_018389.4:c.-218G>C , LRG_107t1:c.-218G>C	NP_060859.4:n.-218G>C
XM_011520203.1:c.-218G>C	XP_011518505.1:n.-218G>C
XM_011520203.3:c.-218G>C	XP_011518505.1:n.-218G>C
NM_001145265.2:c.-31-226G>C	NP_001138737.1:n.-31-226G>C
NM_018389.5:c.-218G>C MANE Select	NP_060859.4:n.-218G>C