Canonical Allele Identifier: CA368258038
Gene: SLC25A13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96121865G>A , CM000669.2:g.96121865G>A GRCh38
NC_000007.13:g.95751177G>A , CM000669.1:g.95751177G>A GRCh37
NC_000007.12:g.95589113G>A NCBI36
NG_012247.1:g.205283C>T
NG_012247.2:g.205283C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265631.10:c.1724C>T MANE Select ENSP00000265631.6:p.Pro575Leu
ENST00000265631.9:c.1724C>T ENSP00000265631.5:p.Pro575Leu
ENST00000416240.6:c.1727C>T ENSP00000400101.2:p.Pro576Leu
ENST00000494085.1:n.134C>T
NM_001160210.1:c.1727C>T NP_001153682.1:p.Pro576Leu
NM_014251.2:c.1724C>T NP_055066.1:p.Pro575Leu
NR_027662.1:n.1799C>T
XM_006715831.2:c.1757C>T XP_006715894.1:p.Pro586Leu
XM_011515728.1:c.872C>T XP_011514030.1:p.Pro291Leu
XM_006715831.4:c.1757C>T XP_006715894.1:p.Pro586Leu
XM_017011663.1:c.1715C>T XP_016867152.1:p.Pro572Leu
XM_017011664.2:c.872C>T XP_016867153.1:p.Pro291Leu
XM_017011665.1:c.872C>T XP_016867154.1:p.Pro291Leu
XR_001744525.2:n.1970C>T
XR_002956405.1:n.2528C>T
NM_014251.3:c.1724C>T MANE Select NP_055066.1:p.Pro575Leu
NR_027662.2:n.1750C>T
NM_001160210.2:c.1727C>T NP_001153682.1:p.Pro576Leu