Canonical Allele Identifier: CA368257270

Gene: SLC25A13

Linked Data

• dbSNP Id: rs1344639277
• gnomAD v2: 7-95750603-G-A
• gnomAD v3: 7-96121291-G-A
• gnomAD v4: 7-96121291-G-A
• MyVariant Identifiers: chr7:g.95750603G>A (hg19) ; chr7:g.96121291G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121291G>A , CM000669.2:g.96121291G>A	GRCh38
NC_000007.13:g.95750603G>A , CM000669.1:g.95750603G>A	GRCh37
NC_000007.12:g.95588539G>A	NCBI36
NG_012247.1:g.205857C>T
NG_012247.2:g.205857C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1928C>T MANE Select	ENSP00000265631.6:p.Ala643Val
ENST00000265631.9:c.1928C>T	ENSP00000265631.5:p.Ala643Val
ENST00000416240.6:c.1931C>T	ENSP00000400101.2:p.Ala644Val
ENST00000494085.1:n.431C>T
NM_001160210.1:c.1931C>T	NP_001153682.1:p.Ala644Val
NM_014251.2:c.1928C>T	NP_055066.1:p.Ala643Val
NR_027662.1:n.2003C>T
XM_006715831.2:c.1961C>T	XP_006715894.1:p.Ala654Val
XM_011515728.1:c.1076C>T	XP_011514030.1:p.Ala359Val
XM_006715831.4:c.1961C>T	XP_006715894.1:p.Ala654Val
XM_017011663.1:c.1919C>T	XP_016867152.1:p.Ala640Val
XM_017011664.2:c.1076C>T	XP_016867153.1:p.Ala359Val
XM_017011665.1:c.1076C>T	XP_016867154.1:p.Ala359Val
XR_001744525.2:n.2174C>T
XR_002956405.1:n.2732C>T
NM_014251.3:c.1928C>T MANE Select	NP_055066.1:p.Ala643Val
NR_027662.2:n.1954C>T
NM_001160210.2:c.1931C>T	NP_001153682.1:p.Ala644Val