Canonical Allele Identifier: CA410497580

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45494560C>T , CM000683.2:g.45494560C>T	GRCh38
NC_000021.8:g.46914474C>T , CM000683.1:g.46914474C>T	GRCh37
NC_000021.7:g.45738902C>T	NCBI36
NG_011903.1:g.94378C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.2908C>T (COL18A1)	ENSP00000347665.5:p.Arg970Ter
ENST00000651438.1:c.2368C>T (COL18A1) MANE Select	ENSP00000498485.1:p.Arg790Ter
ENST00000342220.9:c.409C>T (COL18A1)	ENSP00000339118.5:p.Arg137Ter
ENST00000355480.9:c.2908C>T (COL18A1)	ENSP00000347665.5:p.Arg970Ter
ENST00000359759.8:c.3613C>T (COL18A1)	ENSP00000352798.4:p.Arg1205Ter
ENST00000400337.6:c.2368C>T (COL18A1)	ENSP00000383191.2:p.Arg790Ter
ENST00000417954.5:c.2584G>A (SLC19A1)
ENST00000459895.1:n.122C>T (COL18A1)
NM_030582.3:c.2908C>T (COL18A1)	NP_085059.2:p.Arg970Ter
NM_130444.2:c.3613C>T (COL18A1)	NP_569711.2:p.Arg1205Ter
NM_130445.3:c.2368C>T (COL18A1)	NP_569712.2:p.Arg790Ter
NM_030582.4:c.2908C>T (COL18A1)	NP_085059.2:p.Arg970Ter
NM_130444.3:c.3613C>T (COL18A1)	NP_569711.2:p.Arg1205Ter
NM_130445.4:c.2368C>T (COL18A1)	NP_569712.2:p.Arg790Ter
NM_001379500.1:c.2368C>T (COL18A1) MANE Select	NP_001366429.1:p.Arg790Ter