Canonical Allele Identifier: CA342157

Gene: SLC25A13

Linked Data

• ClinVar Variation Id: 21514
• ClinVar RCV Id: RCV000020704 ; RCV000254826 ; RCV002513147 ; RCV002496427 ; RCV003230369 ; RCV003473115
• dbSNP Id: rs80338729
• ExAC: 7:95750995 G / A
• gnomAD v2: 7-95750995-G-A
• gnomAD v3: 7-96121683-G-A
• gnomAD v4: 7-96121683-G-A
• MyVariant Identifiers: chr7:g.95750995G>A (hg19) ; chr7:g.96121683G>A (hg38)
• PubMed: PMID:11153906 ; PMID:20301360

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96121683G>A , CM000669.2:g.96121683G>A	GRCh38
NC_000007.13:g.95750995G>A , CM000669.1:g.95750995G>A	GRCh37
NC_000007.12:g.95588931G>A	NCBI36
NG_012247.1:g.205465C>T
NG_012247.2:g.205465C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1813C>T MANE Select	ENSP00000265631.6:p.Arg605Ter
ENST00000265631.9:c.1813C>T	ENSP00000265631.5:p.Arg605Ter
ENST00000416240.6:c.1816C>T	ENSP00000400101.2:p.Arg606Ter
ENST00000494085.1:n.316C>T
NM_001160210.1:c.1816C>T	NP_001153682.1:p.Arg606Ter
NM_014251.2:c.1813C>T	NP_055066.1:p.Arg605Ter
NR_027662.1:n.1888C>T
XM_006715831.2:c.1846C>T	XP_006715894.1:p.Arg616Ter
XM_011515728.1:c.961C>T	XP_011514030.1:p.Arg321Ter
XM_006715831.4:c.1846C>T	XP_006715894.1:p.Arg616Ter
XM_017011663.1:c.1804C>T	XP_016867152.1:p.Arg602Ter
XM_017011664.2:c.961C>T	XP_016867153.1:p.Arg321Ter
XM_017011665.1:c.961C>T	XP_016867154.1:p.Arg321Ter
XR_001744525.2:n.2059C>T
XR_002956405.1:n.2617C>T
NM_014251.3:c.1813C>T MANE Select	NP_055066.1:p.Arg605Ter
NR_027662.2:n.1839C>T
NM_001160210.2:c.1816C>T	NP_001153682.1:p.Arg606Ter