Canonical Allele Identifier: CA2392194885
Gene: COL18A1 HGNC NCBI
SLC19A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45509996G= , CM000683.2:g.45509996G= GRCh38
NC_000021.8:g.46929910G= , CM000683.1:g.46929910G= GRCh37
NC_000021.7:g.45754338G= NCBI36
NG_011903.1:g.109805G=
NG_028278.2:g.58148C=

Transcript Alleles

HGVS Amino-acid change
ENST00000355480.10:c.4036-68G= (COL18A1) ENSP00000347665.5:n.4036-68G=
ENST00000651438.1:c.3496-68G= (COL18A1) MANE Select ENSP00000498485.1:n.3496-68G=
ENST00000342220.9:c.1540-68G= (COL18A1) ENSP00000339118.5:n.1540-68G=
ENST00000355480.9:c.4036-68G= (COL18A1) ENSP00000347665.5:n.4036-68G=
ENST00000359759.8:c.4741-68G= (COL18A1) ENSP00000352798.4:n.4741-68G=
ENST00000400337.6:c.3496-68G= (COL18A1) ENSP00000383191.2:n.3496-68G=
ENST00000417954.5:c.498-11384C= (SLC19A1)
ENST00000423214.1:c.450-68G= (COL18A1)
ENST00000473212.1:n.1822-68G= (COL18A1)
ENST00000567670.5:c.1294-11384C= (SLC19A1) ENSP00000457278.1:n.1294-11384C=
NM_030582.3:c.4027-68G= (COL18A1) NP_085059.2:n.4027-68G=
NM_130444.2:c.4732-68G= (COL18A1) NP_569711.2:n.4732-68G=
NM_130445.3:c.3487-68G= (COL18A1) NP_569712.2:n.3487-68G=
XM_011529707.1:c.1585-7027C= (SLC19A1) XP_011528009.1:n.1585-7027C=
XM_017028445.2:c.1585-7027C= (SLC19A1) XP_016883934.1:n.1585-7027C=
NM_030582.4:c.4027-68G= (COL18A1) NP_085059.2:n.4027-68G=
NM_130444.3:c.4732-68G= (COL18A1) NP_569711.2:n.4732-68G=
NM_130445.4:c.3487-68G= (COL18A1) NP_569712.2:n.3487-68G=
NM_001379500.1:c.3496-68G= (COL18A1) MANE Select NP_001366429.1:n.3496-68G=