Canonical Allele Identifier: CA1155580

Gene: SLC25A44

Linked Data

• dbSNP Id: rs2072499
• ExAC: 1:156169610 A / G
• gnomAD v2: 1-156169610-A-G
• gnomAD v3: 1-156199819-A-G
• gnomAD v4: 1-156199819-A-G
• MyVariant Identifiers: chr1:g.156169610A>G (hg19) ; chr1:g.156199819A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156199819A>G , CM000663.2:g.156199819A>G	GRCh38
NC_000001.10:g.156169610A>G , CM000663.1:g.156169610A>G	GRCh37
NC_000001.9:g.154436234A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000359511.5:c.-13-16A>G MANE Select	ENSP00000352497.4:n.-13-16A>G
ENST00000684582.1:c.114+5572A>G	ENSP00000507428.1:n.114+5572A>G
ENST00000359511.4:c.-13-16A>G	ENSP00000352497.4:n.-13-16A>G
ENST00000423538.6:c.-13-16A>G	ENSP00000407560.3:n.-13-16A>G
ENST00000469537.1:n.3615A>G
ENST00000482737.1:n.105-16A>G
NM_001286184.1:c.-13-16A>G	NP_001273113.1:n.-13-16A>G
NM_014655.3:c.-13-16A>G	NP_055470.1:n.-13-16A>G
NR_104408.1:n.477+3646A>G
NR_104411.1:n.316+5572A>G
NR_104412.1:n.316+5572A>G
XM_006711657.2:c.-13-16A>G	XP_006711720.1:n.-13-16A>G
XM_011510180.1:c.-13-16A>G	XP_011508482.1:n.-13-16A>G
XM_011510181.1:c.-13-16A>G	XP_011508483.1:n.-13-16A>G
XM_006711657.4:c.-13-16A>G	XP_006711720.1:n.-13-16A>G
XM_011510181.2:c.-13-16A>G	XP_011508483.1:n.-13-16A>G
XM_017002904.2:c.-13-16A>G	XP_016858393.1:n.-13-16A>G
XM_017002905.2:c.-13-16A>G	XP_016858394.1:n.-13-16A>G
XM_017002906.2:c.-13-16A>G	XP_016858395.1:n.-13-16A>G
XM_024451071.1:c.-13-16A>G	XP_024306839.1:n.-13-16A>G
NM_001286184.2:c.-13-16A>G	NP_001273113.1:n.-13-16A>G
NM_001377385.1:c.-13-16A>G	NP_001364314.1:n.-13-16A>G
NM_001377386.1:c.-13-16A>G	NP_001364315.1:n.-13-16A>G
NM_001377387.1:c.-13-16A>G	NP_001364316.1:n.-13-16A>G
NM_001377388.1:c.-13-16A>G	NP_001364317.1:n.-13-16A>G
NM_001377389.1:c.-13-16A>G	NP_001364318.1:n.-13-16A>G
NM_001377390.1:c.-13-16A>G	NP_001364319.1:n.-13-16A>G
NM_014655.4:c.-13-16A>G MANE Select	NP_055470.1:n.-13-16A>G
NR_104408.2:n.305+3646A>G
NR_104411.2:n.144+5572A>G
NR_104412.2:n.144+5572A>G