Canonical Allele Identifier: CA246797

Gene: SLC25A19

Linked Data

• ClinVar Variation Id: 198249
• ClinVar RCV Id: RCV000179520 ; RCV003333036 ; RCV004020148
• dbSNP Id: rs144393784
• ExAC: 17:73274311 C / T
• gnomAD v2: 17-73274311-C-T
• gnomAD v3: 17-75278230-C-T
• gnomAD v4: 17-75278230-C-T
• MyVariant Identifiers: chr17:g.73274311C>T (hg19) ; chr17:g.75278230C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75278230C>T , CM000679.2:g.75278230C>T	GRCh38
NC_000017.10:g.73274311C>T , CM000679.1:g.73274311C>T	GRCh37
NC_000017.9:g.70785906C>T	NCBI36
NG_008274.1:g.16220G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416858.7:c.565G>A MANE Select	ENSP00000397818.2:p.Ala189Thr
ENST00000320362.7:c.565G>A	ENSP00000319574.3:p.Ala189Thr
ENST00000375261.8:c.394G>A	ENSP00000364410.4:p.Ala132Thr
ENST00000402418.7:c.565G>A	ENSP00000385312.3:p.Ala189Thr
ENST00000416858.6:c.565G>A	ENSP00000397818.2:p.Ala189Thr
ENST00000442286.6:c.565G>A	ENSP00000402202.2:p.Ala189Thr
ENST00000580994.5:c.565G>A	ENSP00000463795.1:p.Ala189Thr
ENST00000582822.1:c.152-4942G>A
ENST00000583332.5:c.460-4591G>A	ENSP00000462214.1:n.460-4591G>A
NM_001126121.1:c.565G>A	NP_001119593.1:p.Ala189Thr
NM_001126122.1:c.565G>A	NP_001119594.1:p.Ala189Thr
NM_021734.4:c.565G>A	NP_068380.3:p.Ala189Thr
XM_005257559.2:c.565G>A	XP_005257616.1:p.Ala189Thr
XM_005257560.1:c.565G>A	XP_005257617.1:p.Ala189Thr
XM_005257561.2:c.565G>A	XP_005257618.1:p.Ala189Thr
XM_005257562.1:c.565G>A	XP_005257619.1:p.Ala189Thr
XM_006722007.1:c.565G>A	XP_006722070.1:p.Ala189Thr
XM_011525098.1:c.460-4591G>A	XP_011523400.1:n.460-4591G>A
XM_005257559.4:c.565G>A	XP_005257616.1:p.Ala189Thr
XM_005257560.2:c.565G>A	XP_005257617.1:p.Ala189Thr
XM_005257561.4:c.565G>A	XP_005257618.1:p.Ala189Thr
XM_005257562.2:c.565G>A	XP_005257619.1:p.Ala189Thr
XM_006722007.2:c.565G>A	XP_006722070.1:p.Ala189Thr
XM_017024926.2:c.565G>A	XP_016880415.1:p.Ala189Thr
XM_017024927.2:c.262G>A	XP_016880416.1:p.Ala88Thr
XM_017024928.2:c.460-4591G>A	XP_016880417.1:n.460-4591G>A
NM_001126121.2:c.565G>A MANE Select	NP_001119593.1:p.Ala189Thr
NM_001126122.2:c.565G>A	NP_001119594.1:p.Ala189Thr
NM_021734.5:c.565G>A	NP_068380.3:p.Ala189Thr