Canonical Allele Identifier: CA6678260

Gene: SLC35E3

Linked Data

• dbSNP Id: rs758911731
• ExAC: 12:69140282 C / T
• gnomAD v2: 12-69140282-C-T
• gnomAD v4: 12-68746502-C-T
• MyVariant Identifiers: chr12:g.69140282C>T (hg19) ; chr12:g.68746502C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746502C>T , CM000674.2:g.68746502C>T	GRCh38
NC_000012.11:g.69140282C>T , CM000674.1:g.69140282C>T	GRCh37
NC_000012.10:g.67426549C>T	NCBI36
NG_046600.2:g.64552C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.368C>T
ENST00000398004.4:c.125C>T MANE Select	ENSP00000381089.2:p.Pro42Leu
ENST00000673712.1:c.125C>T	ENSP00000501065.1:p.Pro42Leu
ENST00000674096.1:c.125C>T	ENSP00000501130.1:p.Pro42Leu
ENST00000398004.3:c.125C>T	ENSP00000381089.2:p.Pro42Leu
NM_018656.2:c.125C>T	NP_061126.2:p.Pro42Leu
XM_005269006.2:c.125C>T	XP_005269063.1:p.Pro42Leu
NM_001354997.1:c.125C>T	NP_001341926.1:p.Pro42Leu
NM_001354998.1:c.125C>T	NP_001341927.1:p.Pro42Leu
NM_018656.3:c.125C>T	NP_061126.2:p.Pro42Leu
NR_149143.1:n.417C>T
NR_149144.1:n.417C>T
NM_001354997.3:c.125C>T	NP_001341926.1:p.Pro42Leu
NM_001354998.2:c.125C>T	NP_001341927.1:p.Pro42Leu
NM_018656.5:c.125C>T MANE Select	NP_061126.2:p.Pro42Leu
NR_149143.3:n.327C>T
NR_149144.3:n.327C>T