Canonical Allele Identifier: CA4353115

Gene: SLC25A13

Linked Data

• dbSNP Id: rs148206472
• ExAC: 7:95818677 C / G
• gnomAD v2: 7-95818677-C-G
• gnomAD v3: 7-96189365-C-G
• gnomAD v4: 7-96189365-C-G
• MyVariant Identifiers: chr7:g.95818677C>G (hg19) ; chr7:g.96189365C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96189365C>G , CM000669.2:g.96189365C>G	GRCh38
NC_000007.13:g.95818677C>G , CM000669.1:g.95818677C>G	GRCh37
NC_000007.12:g.95656613C>G	NCBI36
NG_012247.1:g.137783G>C
NG_012247.2:g.137783G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.862G>C MANE Select	ENSP00000265631.6:p.Ala288Pro
ENST00000265631.9:c.862G>C	ENSP00000265631.5:p.Ala288Pro
ENST00000416240.6:c.862G>C	ENSP00000400101.2:p.Ala288Pro
ENST00000484495.5:n.15G>C
NM_001160210.1:c.862G>C	NP_001153682.1:p.Ala288Pro
NM_014251.2:c.862G>C	NP_055066.1:p.Ala288Pro
NR_027662.1:n.937G>C
XM_006715831.2:c.895G>C	XP_006715894.1:p.Ala299Pro
XM_011515727.1:c.895G>C	XP_011514029.1:p.Ala299Pro
XM_011515728.1:c.10G>C	XP_011514030.1:p.Ala4Pro
XM_006715831.4:c.895G>C	XP_006715894.1:p.Ala299Pro
XM_011515727.3:c.895G>C	XP_011514029.1:p.Ala299Pro
XM_017011663.1:c.853G>C	XP_016867152.1:p.Ala285Pro
XM_017011664.2:c.10G>C	XP_016867153.1:p.Ala4Pro
XM_017011665.1:c.10G>C	XP_016867154.1:p.Ala4Pro
XR_001744525.2:n.1033G>C
XR_002956405.1:n.1175G>C
NM_014251.3:c.862G>C MANE Select	NP_055066.1:p.Ala288Pro
NR_027662.2:n.888G>C
NM_001160210.2:c.862G>C	NP_001153682.1:p.Ala288Pro