Canonical Allele Identifier: CA10067871

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45509479C>A , CM000683.2:g.45509479C>A	GRCh38
NC_000021.8:g.46929393C>A , CM000683.1:g.46929393C>A	GRCh37
NC_000021.7:g.45753821C>A	NCBI36
NG_011903.1:g.109288C>A
NG_028278.2:g.58665G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001379500.1:c.3373C>A (COL18A1) MANE Select	NP_001366429.1:p.Pro1125Thr
ENST00000651438.1:c.3373C>A (COL18A1) MANE Select	ENSP00000498485.1:p.Pro1125Thr
NM_030582.3:c.3904C>A (COL18A1)	NP_085059.2:p.Pro1302Thr
NM_030582.4:c.3904C>A (COL18A1)	NP_085059.2:p.Pro1302Thr
NM_130444.2:c.4609C>A (COL18A1)	NP_569711.2:p.Pro1537Thr
NM_130444.3:c.4609C>A (COL18A1)	NP_569711.2:p.Pro1537Thr
NM_130445.3:c.3364C>A (COL18A1)	NP_569712.2:p.Pro1122Thr
NM_130445.4:c.3364C>A (COL18A1)	NP_569712.2:p.Pro1122Thr
ENST00000342220.9:c.1417C>A (COL18A1)	ENSP00000339118.5:p.Pro473Thr
ENST00000355480.10:c.3913C>A (COL18A1)	ENSP00000347665.5:p.Pro1305Thr
ENST00000355480.9:c.3913C>A (COL18A1)	ENSP00000347665.5:p.Pro1305Thr
ENST00000359759.8:c.4618C>A (COL18A1)	ENSP00000352798.4:p.Pro1540Thr
ENST00000400337.6:c.3373C>A (COL18A1)	ENSP00000383191.2:p.Pro1125Thr
ENST00000417954.5:c.498-10867G>T (SLC19A1)
ENST00000423214.1:c.327C>A (COL18A1)
ENST00000473212.1:n.1699C>A (COL18A1)
ENST00000567670.5:c.1294-10867G>T (SLC19A1)	ENSP00000457278.1:n.1294-10867G>T
XM_011529707.1:c.1585-6510G>T (SLC19A1)	XP_011528009.1:n.1585-6510G>T
XM_017028445.2:c.1585-6510G>T (SLC19A1)	XP_016883934.1:n.1585-6510G>T