Canonical Allele Identifier: CA401004216
Community Standard Title: NM_001126121.2(SLC25A19):c.470C>T (p.Thr157Met)
Gene: SLC25A19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75278325G>A , CM000679.2:g.75278325G>A GRCh38
NC_000017.10:g.73274406G>A , CM000679.1:g.73274406G>A GRCh37
NC_000017.9:g.70786001G>A NCBI36
NG_008274.1:g.16125C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001126121.2:c.470C>T MANE Select NP_001119593.1:p.Thr157Met
ENST00000416858.7:c.470C>T MANE Select ENSP00000397818.2:p.Thr157Met
NM_001126121.1:c.470C>T NP_001119593.1:p.Thr157Met
NM_001126122.1:c.470C>T NP_001119594.1:p.Thr157Met
NM_001126122.2:c.470C>T NP_001119594.1:p.Thr157Met
NM_021734.4:c.470C>T NP_068380.3:p.Thr157Met
NM_021734.5:c.470C>T NP_068380.3:p.Thr157Met
ENST00000320362.7:c.470C>T ENSP00000319574.3:p.Thr157Met
ENST00000375261.8:c.299C>T ENSP00000364410.4:p.Thr100Met
ENST00000402418.7:c.470C>T ENSP00000385312.3:p.Thr157Met
ENST00000416858.6:c.470C>T ENSP00000397818.2:p.Thr157Met
ENST00000442286.6:c.470C>T ENSP00000402202.2:p.Thr157Met
ENST00000580273.1:c.167C>T ENSP00000463039.1:p.Thr56Met
ENST00000580994.5:c.470C>T ENSP00000463795.1:p.Thr157Met
ENST00000582822.1:c.152-5037C>T
ENST00000583332.5:c.460-4686C>T ENSP00000462214.1:n.460-4686C>T
XM_005257559.2:c.470C>T XP_005257616.1:p.Thr157Met
XM_005257559.4:c.470C>T XP_005257616.1:p.Thr157Met
XM_005257560.1:c.470C>T XP_005257617.1:p.Thr157Met
XM_005257560.2:c.470C>T XP_005257617.1:p.Thr157Met
XM_005257561.2:c.470C>T XP_005257618.1:p.Thr157Met
XM_005257561.4:c.470C>T XP_005257618.1:p.Thr157Met
XM_005257562.1:c.470C>T XP_005257619.1:p.Thr157Met
XM_005257562.2:c.470C>T XP_005257619.1:p.Thr157Met
XM_006722007.1:c.470C>T XP_006722070.1:p.Thr157Met
XM_006722007.2:c.470C>T XP_006722070.1:p.Thr157Met
XM_011525098.1:c.460-4686C>T XP_011523400.1:n.460-4686C>T
XM_017024926.2:c.470C>T XP_016880415.1:p.Thr157Met
XM_017024927.2:c.167C>T XP_016880416.1:p.Thr56Met
XM_017024928.2:c.460-4686C>T XP_016880417.1:n.460-4686C>T