Canonical Allele Identifier: CA410499796

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45505427C>A , CM000683.2:g.45505427C>A	GRCh38
NC_000021.8:g.46925341C>A , CM000683.1:g.46925341C>A	GRCh37
NC_000021.7:g.45749769C>A	NCBI36
NG_011903.1:g.105236C>A
NG_028278.2:g.62717G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001379500.1:c.3083C>A (COL18A1) MANE Select	NP_001366429.1:p.Ser1028Ter
ENST00000651438.1:c.3083C>A (COL18A1) MANE Select	ENSP00000498485.1:p.Ser1028Ter
NM_030582.3:c.3614C>A (COL18A1)	NP_085059.2:p.Ser1205Ter
NM_030582.4:c.3614C>A (COL18A1)	NP_085059.2:p.Ser1205Ter
NM_130444.2:c.4319C>A (COL18A1)	NP_569711.2:p.Ser1440Ter
NM_130444.3:c.4319C>A (COL18A1)	NP_569711.2:p.Ser1440Ter
NM_130445.3:c.3074C>A (COL18A1)	NP_569712.2:p.Ser1025Ter
NM_130445.4:c.3074C>A (COL18A1)	NP_569712.2:p.Ser1025Ter
ENST00000342220.9:c.1124C>A (COL18A1)	ENSP00000339118.5:p.Ser375Ter
ENST00000355480.10:c.3623C>A (COL18A1)	ENSP00000347665.5:p.Ser1208Ter
ENST00000355480.9:c.3623C>A (COL18A1)	ENSP00000347665.5:p.Ser1208Ter
ENST00000359759.8:c.4328C>A (COL18A1)	ENSP00000352798.4:p.Ser1443Ter
ENST00000400337.6:c.3083C>A (COL18A1)	ENSP00000383191.2:p.Ser1028Ter
ENST00000417954.5:c.498-6815G>T (SLC19A1)
ENST00000423214.1:c.70C>A (COL18A1)
ENST00000567670.5:c.1294-6815G>T (SLC19A1)	ENSP00000457278.1:n.1294-6815G>T
XM_011529707.1:c.1585-2458G>T (SLC19A1)	XP_011528009.1:n.1585-2458G>T
XM_017028445.2:c.1585-2458G>T (SLC19A1)	XP_016883934.1:n.1585-2458G>T