Canonical Allele Identifier: CA10068114

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45512229G>A , CM000683.2:g.45512229G>A	GRCh38
NC_000021.8:g.46932143G>A , CM000683.1:g.46932143G>A	GRCh37
NC_000021.7:g.45756571G>A	NCBI36
NG_011903.1:g.112038G>A
NG_028278.2:g.55915C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001379500.1:c.3851G>A (COL18A1) MANE Select	NP_001366429.1:p.Arg1284His
ENST00000651438.1:c.3851G>A (COL18A1) MANE Select	ENSP00000498485.1:p.Arg1284His
NM_030582.3:c.4382G>A (COL18A1)	NP_085059.2:p.Arg1461His
NM_030582.4:c.4382G>A (COL18A1)	NP_085059.2:p.Arg1461His
NM_130444.2:c.5087G>A (COL18A1)	NP_569711.2:p.Arg1696His
NM_130444.3:c.5087G>A (COL18A1)	NP_569711.2:p.Arg1696His
NM_130445.3:c.3842G>A (COL18A1)	NP_569712.2:p.Arg1281His
NM_130445.4:c.3842G>A (COL18A1)	NP_569712.2:p.Arg1281His
ENST00000342220.9:c.1895G>A (COL18A1)	ENSP00000339118.5:p.Arg632His
ENST00000355480.10:c.4391G>A (COL18A1)	ENSP00000347665.5:p.Arg1464His
ENST00000355480.9:c.4391G>A (COL18A1)	ENSP00000347665.5:p.Arg1464His
ENST00000359759.8:c.5096G>A (COL18A1)	ENSP00000352798.4:p.Arg1699His
ENST00000400337.6:c.3851G>A (COL18A1)	ENSP00000383191.2:p.Arg1284His
ENST00000417954.5:c.497+13588C>T (SLC19A1)
ENST00000423214.1:c.805G>A (COL18A1)
ENST00000473212.1:n.2177G>A (COL18A1)
ENST00000567670.5:c.1293+13588C>T (SLC19A1)	ENSP00000457278.1:n.1293+13588C>T
XM_011529707.1:c.1585-9260C>T (SLC19A1)	XP_011528009.1:n.1585-9260C>T
XM_017028445.2:c.1585-9260C>T (SLC19A1)	XP_016883934.1:n.1585-9260C>T