Canonical Allele Identifier: CA2392190778

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504534C= , CM000683.2:g.45504534C=	GRCh38
NC_000021.8:g.46924448C= , CM000683.1:g.46924448C=	GRCh37
NC_000021.7:g.45748876C=	NCBI36
NG_011903.1:g.104343C=
NG_028278.2:g.63610G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3386C= (COL18A1)	ENSP00000347665.5:p.Pro1129=
ENST00000651438.1:c.2846C= (COL18A1) MANE Select	ENSP00000498485.1:p.Pro949=
ENST00000342220.9:c.887C= (COL18A1)	ENSP00000339118.5:p.Pro296=
ENST00000355480.9:c.3386C= (COL18A1)	ENSP00000347665.5:p.Pro1129=
ENST00000359759.8:c.4091C= (COL18A1)	ENSP00000352798.4:p.Pro1364=
ENST00000400337.6:c.2846C= (COL18A1)	ENSP00000383191.2:p.Pro949=
ENST00000417954.5:c.498-5922G= (SLC19A1)
ENST00000567670.5:c.1294-5922G= (SLC19A1)	ENSP00000457278.1:n.1294-5922G=
XM_011529707.1:c.1585-1565G= (SLC19A1)	XP_011528009.1:n.1585-1565G=
XM_017028445.2:c.1585-1565G= (SLC19A1)	XP_016883934.1:n.1585-1565G=
NM_001379500.1:c.2846C= (COL18A1) MANE Select	NP_001366429.1:p.Pro949=