Canonical Allele Identifier: CA4353111

Gene: SLC25A13

Linked Data

• dbSNP Id: rs780101587
• ExAC: 7:95818658 G / A
• gnomAD v4: 7-96189346-G-A
• MyVariant Identifiers: chr7:g.95818658G>A (hg19) ; chr7:g.96189346G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96189346G>A , CM000669.2:g.96189346G>A	GRCh38
NC_000007.13:g.95818658G>A , CM000669.1:g.95818658G>A	GRCh37
NC_000007.12:g.95656594G>A	NCBI36
NG_012247.1:g.137802C>T
NG_012247.2:g.137802C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.881C>T MANE Select	ENSP00000265631.6:p.Ala294Val
ENST00000265631.9:c.881C>T	ENSP00000265631.5:p.Ala294Val
ENST00000416240.6:c.881C>T	ENSP00000400101.2:p.Ala294Val
ENST00000484495.5:n.34C>T
NM_001160210.1:c.881C>T	NP_001153682.1:p.Ala294Val
NM_014251.2:c.881C>T	NP_055066.1:p.Ala294Val
NR_027662.1:n.956C>T
XM_006715831.2:c.914C>T	XP_006715894.1:p.Ala305Val
XM_011515727.1:c.914C>T	XP_011514029.1:p.Ala305Val
XM_011515728.1:c.29C>T	XP_011514030.1:p.Ala10Val
XM_006715831.4:c.914C>T	XP_006715894.1:p.Ala305Val
XM_011515727.3:c.914C>T	XP_011514029.1:p.Ala305Val
XM_017011663.1:c.872C>T	XP_016867152.1:p.Ala291Val
XM_017011664.2:c.29C>T	XP_016867153.1:p.Ala10Val
XM_017011665.1:c.29C>T	XP_016867154.1:p.Ala10Val
XR_001744525.2:n.1052C>T
XR_002956405.1:n.1194C>T
NM_014251.3:c.881C>T MANE Select	NP_055066.1:p.Ala294Val
NR_027662.2:n.907C>T
NM_001160210.2:c.881C>T	NP_001153682.1:p.Ala294Val