Canonical Allele Identifier: CA576707776

Gene: SLC25A13

Linked Data

• dbSNP Id: rs1227024430
• gnomAD v2: 7-95818559-T-A
• gnomAD v3: 7-96189247-T-A
• gnomAD v4: 7-96189247-T-A
• MyVariant Identifiers: chr7:g.95818559T>A (hg19) ; chr7:g.96189247T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96189247T>A , CM000669.2:g.96189247T>A	GRCh38
NC_000007.13:g.95818559T>A , CM000669.1:g.95818559T>A	GRCh37
NC_000007.12:g.95656495T>A	NCBI36
NG_012247.1:g.137901A>T
NG_012247.2:g.137901A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.933+47A>T MANE Select	ENSP00000265631.6:n.933+47A>T
ENST00000265631.9:c.933+47A>T	ENSP00000265631.5:n.933+47A>T
ENST00000416240.6:c.933+47A>T	ENSP00000400101.2:n.933+47A>T
ENST00000484495.5:n.86+47A>T
NM_001160210.1:c.933+47A>T	NP_001153682.1:n.933+47A>T
NM_014251.2:c.933+47A>T	NP_055066.1:n.933+47A>T
NR_027662.1:n.1008+47A>T
XM_006715831.2:c.966+47A>T	XP_006715894.1:n.966+47A>T
XM_011515727.1:c.966+47A>T	XP_011514029.1:n.966+47A>T
XM_011515728.1:c.81+47A>T	XP_011514030.1:n.81+47A>T
XM_006715831.4:c.966+47A>T	XP_006715894.1:n.966+47A>T
XM_011515727.3:c.966+47A>T	XP_011514029.1:n.966+47A>T
XM_017011663.1:c.924+47A>T	XP_016867152.1:n.924+47A>T
XM_017011664.2:c.81+47A>T	XP_016867153.1:n.81+47A>T
XM_017011665.1:c.81+47A>T	XP_016867154.1:n.81+47A>T
XR_001744525.2:n.1104+47A>T
XR_002956405.1:n.1246+47A>T
NM_014251.3:c.933+47A>T MANE Select	NP_055066.1:n.933+47A>T
NR_027662.2:n.959+47A>T
NM_001160210.2:c.933+47A>T	NP_001153682.1:n.933+47A>T