Canonical Allele Identifier: CA10067469
Gene: COL18A1 HGNC NCBI
SLC19A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 340256
dbSNP Id: rs11544971

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45504475C>T , CM000683.2:g.45504475C>T GRCh38
NC_000021.8:g.46924389C>T , CM000683.1:g.46924389C>T GRCh37
NC_000021.7:g.45748817C>T NCBI36
NG_011903.1:g.104293C>T
NG_028278.2:g.63669G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355480.10:c.3327C>T (COL18A1) ENSP00000347665.5:p.Gly1109=
ENST00000651438.1:c.2787C>T (COL18A1) MANE Select ENSP00000498485.1:p.Gly929=
ENST00000342220.9:c.828C>T (COL18A1) ENSP00000339118.5:p.Gly276=
ENST00000355480.9:c.3327C>T (COL18A1) ENSP00000347665.5:p.Gly1109=
ENST00000359759.8:c.4032C>T (COL18A1) ENSP00000352798.4:p.Gly1344=
ENST00000400337.6:c.2787C>T (COL18A1) ENSP00000383191.2:p.Gly929=
ENST00000417954.5:c.498-5863G>A (SLC19A1)
ENST00000567670.5:c.1294-5863G>A (SLC19A1) ENSP00000457278.1:n.1294-5863G>A
NM_030582.3:c.3327C>T (COL18A1) NP_085059.2:p.Gly1109=
NM_130444.2:c.4032C>T (COL18A1) NP_569711.2:p.Gly1344=
NM_130445.3:c.2787C>T (COL18A1) NP_569712.2:p.Gly929=
XM_011529707.1:c.1585-1506G>A (SLC19A1) XP_011528009.1:n.1585-1506G>A
XM_017028445.2:c.1585-1506G>A (SLC19A1) XP_016883934.1:n.1585-1506G>A
NM_030582.4:c.3327C>T (COL18A1) NP_085059.2:p.Gly1109=
NM_130444.3:c.4032C>T (COL18A1) NP_569711.2:p.Gly1344=
NM_130445.4:c.2787C>T (COL18A1) NP_569712.2:p.Gly929=
NM_001379500.1:c.2787C>T (COL18A1) MANE Select NP_001366429.1:p.Gly929=