Canonical Allele Identifier: CA2392195909

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511199G= , CM000683.2:g.45511199G=	GRCh38
NC_000021.8:g.46931113G= , CM000683.1:g.46931113G=	GRCh37
NC_000021.7:g.45755541G=	NCBI36
NG_011903.1:g.111008G=
NG_028278.2:g.56945C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4322G= (COL18A1)	ENSP00000347665.5:p.Gly1441=
ENST00000651438.1:c.3782G= (COL18A1) MANE Select	ENSP00000498485.1:p.Gly1261=
ENST00000342220.9:c.1826G= (COL18A1)	ENSP00000339118.5:p.Gly609=
ENST00000355480.9:c.4322G= (COL18A1)	ENSP00000347665.5:p.Gly1441=
ENST00000359759.8:c.5027G= (COL18A1)	ENSP00000352798.4:p.Gly1676=
ENST00000400337.6:c.3782G= (COL18A1)	ENSP00000383191.2:p.Gly1261=
ENST00000417954.5:c.498-12587C= (SLC19A1)
ENST00000423214.1:c.736G= (COL18A1)
ENST00000473212.1:n.2108G= (COL18A1)
ENST00000567670.5:c.1294-12587C= (SLC19A1)	ENSP00000457278.1:n.1294-12587C=
NM_030582.3:c.4313G= (COL18A1)	NP_085059.2:p.Gly1438=
NM_130444.2:c.5018G= (COL18A1)	NP_569711.2:p.Gly1673=
NM_130445.3:c.3773G= (COL18A1)	NP_569712.2:p.Gly1258=
XM_011529707.1:c.1585-8230C= (SLC19A1)	XP_011528009.1:n.1585-8230C=
XM_017028445.2:c.1585-8230C= (SLC19A1)	XP_016883934.1:n.1585-8230C=
NM_030582.4:c.4313G= (COL18A1)	NP_085059.2:p.Gly1438=
NM_130444.3:c.5018G= (COL18A1)	NP_569711.2:p.Gly1673=
NM_130445.4:c.3773G= (COL18A1)	NP_569712.2:p.Gly1258=
NM_001379500.1:c.3782G= (COL18A1) MANE Select	NP_001366429.1:p.Gly1261=