Canonical Allele Identifier: CA638164665

Gene: COL18A1 SLC19A1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45495354C>G , CM000683.2:g.45495354C>G	GRCh38
NC_000021.8:g.46915268C>G , CM000683.1:g.46915268C>G	GRCh37
NC_000021.7:g.45739696C>G	NCBI36
NG_011903.1:g.95172C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001379500.1:c.2434-4C>G (COL18A1) MANE Select	NP_001366429.1:n.2434-4C>G
ENST00000651438.1:c.2434-4C>G (COL18A1) MANE Select	ENSP00000498485.1:n.2434-4C>G
NM_030582.3:c.2974-4C>G (COL18A1)	NP_085059.2:n.2974-4C>G
NM_030582.4:c.2974-4C>G (COL18A1)	NP_085059.2:n.2974-4C>G
NM_130444.2:c.3679-4C>G (COL18A1)	NP_569711.2:n.3679-4C>G
NM_130444.3:c.3679-4C>G (COL18A1)	NP_569711.2:n.3679-4C>G
NM_130445.3:c.2434-4C>G (COL18A1)	NP_569712.2:n.2434-4C>G
NM_130445.4:c.2434-4C>G (COL18A1)	NP_569712.2:n.2434-4C>G
ENST00000342220.9:c.475-4C>G (COL18A1)	ENSP00000339118.5:n.475-4C>G
ENST00000355480.10:c.2974-4C>G (COL18A1)	ENSP00000347665.5:n.2974-4C>G
ENST00000355480.9:c.2974-4C>G (COL18A1)	ENSP00000347665.5:n.2974-4C>G
ENST00000359759.8:c.3679-4C>G (COL18A1)	ENSP00000352798.4:n.3679-4C>G
ENST00000400337.6:c.2434-4C>G (COL18A1)	ENSP00000383191.2:n.2434-4C>G
ENST00000417954.5:c.1790G>C (SLC19A1)
ENST00000459895.1:n.188-4C>G (COL18A1)