Canonical Allele Identifier: CA368258265

Gene: SLC25A13

Linked Data

• MyVariant Identifiers: chr7:g.95751232T>G (hg19) ; chr7:g.96121920T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121920T>G , CM000669.2:g.96121920T>G	GRCh38
NC_000007.13:g.95751232T>G , CM000669.1:g.95751232T>G	GRCh37
NC_000007.12:g.95589168T>G	NCBI36
NG_012247.1:g.205228A>C
NG_012247.2:g.205228A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1669A>C MANE Select	ENSP00000265631.6:p.Thr557Pro
ENST00000265631.9:c.1669A>C	ENSP00000265631.5:p.Thr557Pro
ENST00000416240.6:c.1672A>C	ENSP00000400101.2:p.Thr558Pro
ENST00000494085.1:n.79A>C
NM_001160210.1:c.1672A>C	NP_001153682.1:p.Thr558Pro
NM_014251.2:c.1669A>C	NP_055066.1:p.Thr557Pro
NR_027662.1:n.1744A>C
XM_006715831.2:c.1702A>C	XP_006715894.1:p.Thr568Pro
XM_011515728.1:c.817A>C	XP_011514030.1:p.Thr273Pro
XM_006715831.4:c.1702A>C	XP_006715894.1:p.Thr568Pro
XM_017011663.1:c.1660A>C	XP_016867152.1:p.Thr554Pro
XM_017011664.2:c.817A>C	XP_016867153.1:p.Thr273Pro
XM_017011665.1:c.817A>C	XP_016867154.1:p.Thr273Pro
XR_001744525.2:n.1915A>C
XR_002956405.1:n.2473A>C
NM_014251.3:c.1669A>C MANE Select	NP_055066.1:p.Thr557Pro
NR_027662.2:n.1695A>C
NM_001160210.2:c.1672A>C	NP_001153682.1:p.Thr558Pro