Canonical Allele Identifier: CA2392196207

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511680C= , CM000683.2:g.45511680C=	GRCh38
NC_000021.8:g.46931594C= , CM000683.1:g.46931594C=	GRCh37
NC_000021.7:g.45756022C=	NCBI36
NG_011903.1:g.111489C=
NG_028278.2:g.56464G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.4349+454C= (COL18A1)	ENSP00000347665.5:n.4349+454C=
ENST00000651438.1:c.3809+454C= (COL18A1) MANE Select	ENSP00000498485.1:n.3809+454C=
ENST00000342220.9:c.1853+454C= (COL18A1)	ENSP00000339118.5:n.1853+454C=
ENST00000355480.9:c.4349+454C= (COL18A1)	ENSP00000347665.5:n.4349+454C=
ENST00000359759.8:c.5054+454C= (COL18A1)	ENSP00000352798.4:n.5054+454C=
ENST00000400337.6:c.3809+454C= (COL18A1)	ENSP00000383191.2:n.3809+454C=
ENST00000417954.5:c.498-13068G= (SLC19A1)
ENST00000423214.1:c.763+454C= (COL18A1)
ENST00000473212.1:n.2135+454C= (COL18A1)
ENST00000567670.5:c.1294-13068G= (SLC19A1)	ENSP00000457278.1:n.1294-13068G=
NM_030582.3:c.4340+454C= (COL18A1)	NP_085059.2:n.4340+454C=
NM_130444.2:c.5045+454C= (COL18A1)	NP_569711.2:n.5045+454C=
NM_130445.3:c.3800+454C= (COL18A1)	NP_569712.2:n.3800+454C=
XM_011529707.1:c.1585-8711G= (SLC19A1)	XP_011528009.1:n.1585-8711G=
XM_017028445.2:c.1585-8711G= (SLC19A1)	XP_016883934.1:n.1585-8711G=
NM_030582.4:c.4340+454C= (COL18A1)	NP_085059.2:n.4340+454C=
NM_130444.3:c.5045+454C= (COL18A1)	NP_569711.2:n.5045+454C=
NM_130445.4:c.3800+454C= (COL18A1)	NP_569712.2:n.3800+454C=
NM_001379500.1:c.3809+454C= (COL18A1) MANE Select	NP_001366429.1:n.3809+454C=