Canonical Allele Identifier: CA238452576

Gene: SLC35E3

Linked Data

• dbSNP Id: rs974781179
• gnomAD v2: 12-69140302-G-C
• gnomAD v3: 12-68746522-G-C
• gnomAD v4: 12-68746522-G-C
• MyVariant Identifiers: chr12:g.69140302G>C (hg19) ; chr12:g.68746522G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746522G>C , CM000674.2:g.68746522G>C	GRCh38
NC_000012.11:g.69140302G>C , CM000674.1:g.69140302G>C	GRCh37
NC_000012.10:g.67426569G>C	NCBI36
NG_046600.2:g.64572G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.388G>C
ENST00000398004.4:c.145G>C MANE Select	ENSP00000381089.2:p.Val49Leu
ENST00000673712.1:c.145G>C	ENSP00000501065.1:p.Val49Leu
ENST00000674096.1:c.145G>C	ENSP00000501130.1:p.Val49Leu
ENST00000398004.3:c.145G>C	ENSP00000381089.2:p.Val49Leu
NM_018656.2:c.145G>C	NP_061126.2:p.Val49Leu
XM_005269006.2:c.145G>C	XP_005269063.1:p.Val49Leu
NM_001354997.1:c.145G>C	NP_001341926.1:p.Val49Leu
NM_001354998.1:c.145G>C	NP_001341927.1:p.Val49Leu
NM_018656.3:c.145G>C	NP_061126.2:p.Val49Leu
NR_149143.1:n.437G>C
NR_149144.1:n.437G>C
NM_001354997.3:c.145G>C	NP_001341926.1:p.Val49Leu
NM_001354998.2:c.145G>C	NP_001341927.1:p.Val49Leu
NM_018656.5:c.145G>C MANE Select	NP_061126.2:p.Val49Leu
NR_149143.3:n.347G>C
NR_149144.3:n.347G>C