Canonical Allele Identifier: CA368262228

Gene: SLC25A13

Linked Data

• gnomAD v4: 7-96189340-A-G
• MyVariant Identifiers: chr7:g.95818652A>G (hg19) ; chr7:g.96189340A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96189340A>G , CM000669.2:g.96189340A>G	GRCh38
NC_000007.13:g.95818652A>G , CM000669.1:g.95818652A>G	GRCh37
NC_000007.12:g.95656588A>G	NCBI36
NG_012247.1:g.137808T>C
NG_012247.2:g.137808T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.887T>C MANE Select	ENSP00000265631.6:p.Leu296Pro
ENST00000265631.9:c.887T>C	ENSP00000265631.5:p.Leu296Pro
ENST00000416240.6:c.887T>C	ENSP00000400101.2:p.Leu296Pro
ENST00000484495.5:n.40T>C
NM_001160210.1:c.887T>C	NP_001153682.1:p.Leu296Pro
NM_014251.2:c.887T>C	NP_055066.1:p.Leu296Pro
NR_027662.1:n.962T>C
XM_006715831.2:c.920T>C	XP_006715894.1:p.Leu307Pro
XM_011515727.1:c.920T>C	XP_011514029.1:p.Leu307Pro
XM_011515728.1:c.35T>C	XP_011514030.1:p.Leu12Pro
XM_006715831.4:c.920T>C	XP_006715894.1:p.Leu307Pro
XM_011515727.3:c.920T>C	XP_011514029.1:p.Leu307Pro
XM_017011663.1:c.878T>C	XP_016867152.1:p.Leu293Pro
XM_017011664.2:c.35T>C	XP_016867153.1:p.Leu12Pro
XM_017011665.1:c.35T>C	XP_016867154.1:p.Leu12Pro
XR_001744525.2:n.1058T>C
XR_002956405.1:n.1200T>C
NM_014251.3:c.887T>C MANE Select	NP_055066.1:p.Leu296Pro
NR_027662.2:n.913T>C
NM_001160210.2:c.887T>C	NP_001153682.1:p.Leu296Pro