Canonical Allele Identifier: CA8760935
Community Standard Title: NM_001126121.2(SLC25A19):c.642T>C (p.Asn214=)
Gene: SLC25A19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75278153A>G , CM000679.2:g.75278153A>G GRCh38
NC_000017.10:g.73274234A>G , CM000679.1:g.73274234A>G GRCh37
NC_000017.9:g.70785829A>G NCBI36
NG_008274.1:g.16297T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001126121.2:c.642T>C MANE Select NP_001119593.1:p.Asn214=
ENST00000416858.7:c.642T>C MANE Select ENSP00000397818.2:p.Asn214=
NM_001126121.1:c.642T>C NP_001119593.1:p.Asn214=
NM_001126122.1:c.642T>C NP_001119594.1:p.Asn214=
NM_001126122.2:c.642T>C NP_001119594.1:p.Asn214=
NM_021734.4:c.642T>C NP_068380.3:p.Asn214=
NM_021734.5:c.642T>C NP_068380.3:p.Asn214=
ENST00000320362.7:c.642T>C ENSP00000319574.3:p.Asn214=
ENST00000375261.8:c.471T>C ENSP00000364410.4:p.Asn157=
ENST00000402418.7:c.642T>C ENSP00000385312.3:p.Asn214=
ENST00000416858.6:c.642T>C ENSP00000397818.2:p.Asn214=
ENST00000442286.6:c.642T>C ENSP00000402202.2:p.Asn214=
ENST00000580994.5:c.642T>C ENSP00000463795.1:p.Asn214=
ENST00000582822.1:c.152-4865T>C
ENST00000583332.5:c.460-4514T>C ENSP00000462214.1:n.460-4514T>C
XM_005257559.2:c.642T>C XP_005257616.1:p.Asn214=
XM_005257559.4:c.642T>C XP_005257616.1:p.Asn214=
XM_005257560.1:c.642T>C XP_005257617.1:p.Asn214=
XM_005257560.2:c.642T>C XP_005257617.1:p.Asn214=
XM_005257561.2:c.642T>C XP_005257618.1:p.Asn214=
XM_005257561.4:c.642T>C XP_005257618.1:p.Asn214=
XM_005257562.1:c.642T>C XP_005257619.1:p.Asn214=
XM_005257562.2:c.642T>C XP_005257619.1:p.Asn214=
XM_006722007.1:c.642T>C XP_006722070.1:p.Asn214=
XM_006722007.2:c.642T>C XP_006722070.1:p.Asn214=
XM_011525098.1:c.460-4514T>C XP_011523400.1:n.460-4514T>C
XM_017024926.2:c.642T>C XP_016880415.1:p.Asn214=
XM_017024927.2:c.339T>C XP_016880416.1:p.Asn113=
XM_017024928.2:c.460-4514T>C XP_016880417.1:n.460-4514T>C