Canonical Allele Identifier: CA162992505

Gene: SLC25A13

Linked Data

• dbSNP Id: rs1039282208
• gnomAD v2: 7-95751222-C-T
• gnomAD v3: 7-96121910-C-T
• gnomAD v4: 7-96121910-C-T
• MyVariant Identifiers: chr7:g.95751222C>T (hg19) ; chr7:g.96121910C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121910C>T , CM000669.2:g.96121910C>T	GRCh38
NC_000007.13:g.95751222C>T , CM000669.1:g.95751222C>T	GRCh37
NC_000007.12:g.95589158C>T	NCBI36
NG_012247.1:g.205238G>A
NG_012247.2:g.205238G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1679G>A MANE Select	ENSP00000265631.6:p.Ser560Asn
ENST00000265631.9:c.1679G>A	ENSP00000265631.5:p.Ser560Asn
ENST00000416240.6:c.1682G>A	ENSP00000400101.2:p.Ser561Asn
ENST00000494085.1:n.89G>A
NM_001160210.1:c.1682G>A	NP_001153682.1:p.Ser561Asn
NM_014251.2:c.1679G>A	NP_055066.1:p.Ser560Asn
NR_027662.1:n.1754G>A
XM_006715831.2:c.1712G>A	XP_006715894.1:p.Ser571Asn
XM_011515728.1:c.827G>A	XP_011514030.1:p.Ser276Asn
XM_006715831.4:c.1712G>A	XP_006715894.1:p.Ser571Asn
XM_017011663.1:c.1670G>A	XP_016867152.1:p.Ser557Asn
XM_017011664.2:c.827G>A	XP_016867153.1:p.Ser276Asn
XM_017011665.1:c.827G>A	XP_016867154.1:p.Ser276Asn
XR_001744525.2:n.1925G>A
XR_002956405.1:n.2483G>A
NM_014251.3:c.1679G>A MANE Select	NP_055066.1:p.Ser560Asn
NR_027662.2:n.1705G>A
NM_001160210.2:c.1682G>A	NP_001153682.1:p.Ser561Asn