Canonical Allele Identifier: CA368258588

Gene: SLC25A13

Linked Data

• MyVariant Identifiers: chr7:g.95751294G>A (hg19) ; chr7:g.96121982G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121982G>A , CM000669.2:g.96121982G>A	GRCh38
NC_000007.13:g.95751294G>A , CM000669.1:g.95751294G>A	GRCh37
NC_000007.12:g.95589230G>A	NCBI36
NG_012247.1:g.205166C>T
NG_012247.2:g.205166C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1607C>T MANE Select	ENSP00000265631.6:p.Ser536Phe
ENST00000265631.9:c.1607C>T	ENSP00000265631.5:p.Ser536Phe
ENST00000416240.6:c.1610C>T	ENSP00000400101.2:p.Ser537Phe
ENST00000494085.1:n.17C>T
NM_001160210.1:c.1610C>T	NP_001153682.1:p.Ser537Phe
NM_014251.2:c.1607C>T	NP_055066.1:p.Ser536Phe
NR_027662.1:n.1682C>T
XM_006715831.2:c.1640C>T	XP_006715894.1:p.Ser547Phe
XM_011515728.1:c.755C>T	XP_011514030.1:p.Ser252Phe
XM_006715831.4:c.1640C>T	XP_006715894.1:p.Ser547Phe
XM_017011663.1:c.1598C>T	XP_016867152.1:p.Ser533Phe
XM_017011664.2:c.755C>T	XP_016867153.1:p.Ser252Phe
XM_017011665.1:c.755C>T	XP_016867154.1:p.Ser252Phe
XR_001744525.2:n.1853C>T
XR_002956405.1:n.2411C>T
NM_014251.3:c.1607C>T MANE Select	NP_055066.1:p.Ser536Phe
NR_027662.2:n.1633C>T
NM_001160210.2:c.1610C>T	NP_001153682.1:p.Ser537Phe