Canonical Allele Identifier: CA4352744

Gene: SLC25A13

Linked Data

• dbSNP Id: rs148962110
• ExAC: 7:95750621 A / C
• gnomAD v2: 7-95750621-A-C
• gnomAD v4: 7-96121309-A-C
• MyVariant Identifiers: chr7:g.95750621A>C (hg19) ; chr7:g.96121309A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1910T>G MANE Select	ENSP00000265631.6:p.Val637Gly
ENST00000265631.9:c.1910T>G	ENSP00000265631.5:p.Val637Gly
ENST00000416240.6:c.1913T>G	ENSP00000400101.2:p.Val638Gly
ENST00000494085.1:n.413T>G
NM_001160210.1:c.1913T>G	NP_001153682.1:p.Val638Gly
NM_014251.2:c.1910T>G	NP_055066.1:p.Val637Gly
NR_027662.1:n.1985T>G
XM_006715831.2:c.1943T>G	XP_006715894.1:p.Val648Gly
XM_011515728.1:c.1058T>G	XP_011514030.1:p.Val353Gly
XM_006715831.4:c.1943T>G	XP_006715894.1:p.Val648Gly
XM_017011663.1:c.1901T>G	XP_016867152.1:p.Val634Gly
XM_017011664.2:c.1058T>G	XP_016867153.1:p.Val353Gly
XM_017011665.1:c.1058T>G	XP_016867154.1:p.Val353Gly
XR_001744525.2:n.2156T>G
XR_002956405.1:n.2714T>G
NM_014251.3:c.1910T>G MANE Select	NP_055066.1:p.Val637Gly
NR_027662.2:n.1936T>G
NM_001160210.2:c.1913T>G	NP_001153682.1:p.Val638Gly