Canonical Allele Identifier: CA576352512

Gene: SLC25A13

Linked Data

• dbSNP Id: rs1187164468
• gnomAD v2: 7-95813408-G-C
• gnomAD v3: 7-96184096-G-C
• gnomAD v4: 7-96184096-G-C
• MyVariant Identifiers: chr7:g.95813408G>C (hg19) ; chr7:g.96184096G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96184096G>C , CM000669.2:g.96184096G>C	GRCh38
NC_000007.13:g.95813408G>C , CM000669.1:g.95813408G>C	GRCh37
NC_000007.12:g.95651344G>C	NCBI36
NG_012247.1:g.143052C>G
NG_012247.2:g.143052C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265631.10:c.1177+181C>G MANE Select	ENSP00000265631.6:n.1177+181C>G
ENST00000265631.9:c.1177+181C>G	ENSP00000265631.5:n.1177+181C>G
ENST00000416240.6:c.1180+181C>G	ENSP00000400101.2:n.1180+181C>G
ENST00000484495.5:n.330+181C>G
ENST00000490072.5:n.244+181C>G
ENST00000492869.1:n.298+181C>G
NM_001160210.1:c.1180+181C>G	NP_001153682.1:n.1180+181C>G
NM_014251.2:c.1177+181C>G	NP_055066.1:n.1177+181C>G
NR_027662.1:n.1252+181C>G
XM_006715831.2:c.1210+181C>G	XP_006715894.1:n.1210+181C>G
XM_011515727.1:c.1210+181C>G	XP_011514029.1:n.1210+181C>G
XM_011515728.1:c.325+181C>G	XP_011514030.1:n.325+181C>G
XM_006715831.4:c.1210+181C>G	XP_006715894.1:n.1210+181C>G
XM_011515727.3:c.1210+181C>G	XP_011514029.1:n.1210+181C>G
XM_017011663.1:c.1168+181C>G	XP_016867152.1:n.1168+181C>G
XM_017011664.2:c.325+181C>G	XP_016867153.1:n.325+181C>G
XM_017011665.1:c.325+181C>G	XP_016867154.1:n.325+181C>G
XR_001744525.2:n.1348+181C>G
XR_002956405.1:n.1981+181C>G
NM_014251.3:c.1177+181C>G MANE Select	NP_055066.1:n.1177+181C>G
NR_027662.2:n.1203+181C>G
NM_001160210.2:c.1180+181C>G	NP_001153682.1:n.1180+181C>G