Canonical Allele Identifier: CA410499147
Gene: COL18A1 HGNC NCBI
SLC19A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2196395
ClinVar RCV Id: RCV002633638
dbSNP Id: rs1439816216

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45504444G>C , CM000683.2:g.45504444G>C GRCh38
NC_000021.8:g.46924358G>C , CM000683.1:g.46924358G>C GRCh37
NC_000021.7:g.45748786G>C NCBI36
NG_011903.1:g.104262G>C
NG_028278.2:g.63700C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355480.10:c.3296G>C (COL18A1) ENSP00000347665.5:p.Gly1099Ala
ENST00000651438.1:c.2756G>C (COL18A1) MANE Select ENSP00000498485.1:p.Gly919Ala
ENST00000342220.9:c.797G>C (COL18A1) ENSP00000339118.5:p.Gly266Ala
ENST00000355480.9:c.3296G>C (COL18A1) ENSP00000347665.5:p.Gly1099Ala
ENST00000359759.8:c.4001G>C (COL18A1) ENSP00000352798.4:p.Gly1334Ala
ENST00000400337.6:c.2756G>C (COL18A1) ENSP00000383191.2:p.Gly919Ala
ENST00000417954.5:c.498-5832C>G (SLC19A1)
ENST00000567670.5:c.1294-5832C>G (SLC19A1) ENSP00000457278.1:n.1294-5832C>G
NM_030582.3:c.3296G>C (COL18A1) NP_085059.2:p.Gly1099Ala
NM_130444.2:c.4001G>C (COL18A1) NP_569711.2:p.Gly1334Ala
NM_130445.3:c.2756G>C (COL18A1) NP_569712.2:p.Gly919Ala
XM_011529707.1:c.1585-1475C>G (SLC19A1) XP_011528009.1:n.1585-1475C>G
XM_017028445.2:c.1585-1475C>G (SLC19A1) XP_016883934.1:n.1585-1475C>G
NM_030582.4:c.3296G>C (COL18A1) NP_085059.2:p.Gly1099Ala
NM_130444.3:c.4001G>C (COL18A1) NP_569711.2:p.Gly1334Ala
NM_130445.4:c.2756G>C (COL18A1) NP_569712.2:p.Gly919Ala
NM_001379500.1:c.2756G>C (COL18A1) MANE Select NP_001366429.1:p.Gly919Ala