Canonical Allele Identifier: CA368257382

Gene: SLC25A13

Linked Data

• dbSNP Id: rs1384070171
• gnomAD v3: 7-96121318-G-T
• gnomAD v4: 7-96121318-G-T
• MyVariant Identifiers: chr7:g.95750630G>T (hg19) ; chr7:g.96121318G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121318G>T , CM000669.2:g.96121318G>T	GRCh38
NC_000007.13:g.95750630G>T , CM000669.1:g.95750630G>T	GRCh37
NC_000007.12:g.95588566G>T	NCBI36
NG_012247.1:g.205830C>A
NG_012247.2:g.205830C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265631.10:c.1901C>A MANE Select	ENSP00000265631.6:p.Pro634His
ENST00000265631.9:c.1901C>A	ENSP00000265631.5:p.Pro634His
ENST00000416240.6:c.1904C>A	ENSP00000400101.2:p.Pro635His
ENST00000494085.1:n.404C>A
NM_001160210.1:c.1904C>A	NP_001153682.1:p.Pro635His
NM_014251.2:c.1901C>A	NP_055066.1:p.Pro634His
NR_027662.1:n.1976C>A
XM_006715831.2:c.1934C>A	XP_006715894.1:p.Pro645His
XM_011515728.1:c.1049C>A	XP_011514030.1:p.Pro350His
XM_006715831.4:c.1934C>A	XP_006715894.1:p.Pro645His
XM_017011663.1:c.1892C>A	XP_016867152.1:p.Pro631His
XM_017011664.2:c.1049C>A	XP_016867153.1:p.Pro350His
XM_017011665.1:c.1049C>A	XP_016867154.1:p.Pro350His
XR_001744525.2:n.2147C>A
XR_002956405.1:n.2705C>A
NM_014251.3:c.1901C>A MANE Select	NP_055066.1:p.Pro634His
NR_027662.2:n.1927C>A
NM_001160210.2:c.1904C>A	NP_001153682.1:p.Pro635His