Canonical Allele Identifier: CA312978

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 203938
• ClinVar RCV Id: RCV000270533 ; RCV000381101 ; RCV000726730 ; RCV000764738 ; RCV001095246 ; RCV001277319 ; RCV003967465
• dbSNP Id: rs148962110
• ExAC: 7:95750621 A / G
• gnomAD v2: 7-95750621-A-G
• gnomAD v3: 7-96121309-A-G
• gnomAD v4: 7-96121309-A-G
• MyVariant Identifiers: chr7:g.95750621A>G (hg19) ; chr7:g.96121309A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121309A>G , CM000669.2:g.96121309A>G	GRCh38
NC_000007.13:g.95750621A>G , CM000669.1:g.95750621A>G	GRCh37
NC_000007.12:g.95588557A>G	NCBI36
NG_012247.1:g.205839T>C
NG_012247.2:g.205839T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1910T>C MANE Select	ENSP00000265631.6:p.Val637Ala
ENST00000265631.9:c.1910T>C	ENSP00000265631.5:p.Val637Ala
ENST00000416240.6:c.1913T>C	ENSP00000400101.2:p.Val638Ala
ENST00000494085.1:n.413T>C
NM_001160210.1:c.1913T>C	NP_001153682.1:p.Val638Ala
NM_014251.2:c.1910T>C	NP_055066.1:p.Val637Ala
NR_027662.1:n.1985T>C
XM_006715831.2:c.1943T>C	XP_006715894.1:p.Val648Ala
XM_011515728.1:c.1058T>C	XP_011514030.1:p.Val353Ala
XM_006715831.4:c.1943T>C	XP_006715894.1:p.Val648Ala
XM_017011663.1:c.1901T>C	XP_016867152.1:p.Val634Ala
XM_017011664.2:c.1058T>C	XP_016867153.1:p.Val353Ala
XM_017011665.1:c.1058T>C	XP_016867154.1:p.Val353Ala
XR_001744525.2:n.2156T>C
XR_002956405.1:n.2714T>C
NM_014251.3:c.1910T>C MANE Select	NP_055066.1:p.Val637Ala
NR_027662.2:n.1936T>C
NM_001160210.2:c.1913T>C	NP_001153682.1:p.Val638Ala