Canonical Allele Identifier: CA575855146

Gene: SLC25A40

Linked Data

• dbSNP Id: rs1362993272
• gnomAD v2: 7-87466731-A-G
• gnomAD v3: 7-87837416-A-G
• gnomAD v4: 7-87837416-A-G
• MyVariant Identifiers: chr7:g.87466731A>G (hg19) ; chr7:g.87837416A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87837416A>G , CM000669.2:g.87837416A>G	GRCh38
NC_000007.13:g.87466731A>G , CM000669.1:g.87466731A>G	GRCh37
NC_000007.12:g.87304667A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341119.10:c.824-606T>C MANE Select	ENSP00000344831.5:n.824-606T>C
ENST00000341119.9:c.824-606T>C	ENSP00000344831.5:n.824-606T>C
ENST00000429674.5:c.*641-606T>C	ENSP00000405566.1:n.*641-606T>C
ENST00000446236.5:c.*187-606T>C	ENSP00000401473.1:n.*187-606T>C
ENST00000470328.1:n.636-1055T>C
ENST00000496348.5:n.110-606T>C
NM_018843.3:c.824-606T>C	NP_061331.2:n.824-606T>C
XM_005250496.3:c.824-606T>C	XP_005250553.1:n.824-606T>C
XM_011516401.1:c.824-606T>C	XP_011514703.1:n.824-606T>C
XM_011516402.1:c.824-606T>C	XP_011514704.1:n.824-606T>C
XM_011516403.1:c.824-1055T>C	XP_011514705.1:n.824-1055T>C
XM_011516404.1:c.638-606T>C	XP_011514706.1:n.638-606T>C
XM_011516405.1:c.638-606T>C	XP_011514707.1:n.638-606T>C
XR_927490.1:n.1300-606T>C
NM_018843.4:c.824-606T>C MANE Select	NP_061331.2:n.824-606T>C