Canonical Allele Identifier: CA456632296
Gene: SLC25A13 HGNC NCBI

Linked Data

dbSNP Id: rs201168119
gnomAD v3: 7-96121912-G-A
gnomAD v4: 7-96121912-G-A
MyVariant Identifiers: chr7:g.95751224G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.96121912G>A , CM000669.2:g.96121912G>A GRCh38
NC_000007.13:g.95751224G>A , CM000669.1:g.95751224G>A GRCh37
NC_000007.12:g.95589160G>A NCBI36
NG_012247.1:g.205236C>T
NG_012247.2:g.205236C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265631.10:c.1677C>T MANE Select ENSP00000265631.6:p.Tyr559=
ENST00000265631.9:c.1677C>T ENSP00000265631.5:p.Tyr559=
ENST00000416240.6:c.1680C>T ENSP00000400101.2:p.Tyr560=
ENST00000494085.1:n.87C>T
NM_001160210.1:c.1680C>T NP_001153682.1:p.Tyr560=
NM_014251.2:c.1677C>T NP_055066.1:p.Tyr559=
NR_027662.1:n.1752C>T
XM_006715831.2:c.1710C>T XP_006715894.1:p.Tyr570=
XM_011515728.1:c.825C>T XP_011514030.1:p.Tyr275=
XM_006715831.4:c.1710C>T XP_006715894.1:p.Tyr570=
XM_017011663.1:c.1668C>T XP_016867152.1:p.Tyr556=
XM_017011664.2:c.825C>T XP_016867153.1:p.Tyr275=
XM_017011665.1:c.825C>T XP_016867154.1:p.Tyr275=
XR_001744525.2:n.1923C>T
XR_002956405.1:n.2481C>T
NM_014251.3:c.1677C>T MANE Select NP_055066.1:p.Tyr559=
NR_027662.2:n.1703C>T
NM_001160210.2:c.1680C>T NP_001153682.1:p.Tyr560=