Canonical Allele Identifier: CA410499290
Gene: COL18A1 HGNC NCBI
SLC19A1 HGNC NCBI

Linked Data

dbSNP Id: rs943491304

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45504521G>T , CM000683.2:g.45504521G>T GRCh38
NC_000021.8:g.46924435G>T , CM000683.1:g.46924435G>T GRCh37
NC_000021.7:g.45748863G>T NCBI36
NG_011903.1:g.104330G>T
NG_028278.2:g.63623C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355480.10:c.3373G>T (COL18A1) ENSP00000347665.5:p.Gly1125Cys
ENST00000651438.1:c.2833G>T (COL18A1) MANE Select ENSP00000498485.1:p.Gly945Cys
ENST00000342220.9:c.874G>T (COL18A1) ENSP00000339118.5:p.Gly292Cys
ENST00000355480.9:c.3373G>T (COL18A1) ENSP00000347665.5:p.Gly1125Cys
ENST00000359759.8:c.4078G>T (COL18A1) ENSP00000352798.4:p.Gly1360Cys
ENST00000400337.6:c.2833G>T (COL18A1) ENSP00000383191.2:p.Gly945Cys
ENST00000417954.5:c.498-5909C>A (SLC19A1)
ENST00000567670.5:c.1294-5909C>A (SLC19A1) ENSP00000457278.1:n.1294-5909C>A
NM_030582.3:c.3373G>T (COL18A1) NP_085059.2:p.Gly1125Cys
NM_130444.2:c.4078G>T (COL18A1) NP_569711.2:p.Gly1360Cys
NM_130445.3:c.2833G>T (COL18A1) NP_569712.2:p.Gly945Cys
XM_011529707.1:c.1585-1552C>A (SLC19A1) XP_011528009.1:n.1585-1552C>A
XM_017028445.2:c.1585-1552C>A (SLC19A1) XP_016883934.1:n.1585-1552C>A
NM_030582.4:c.3373G>T (COL18A1) NP_085059.2:p.Gly1125Cys
NM_130444.3:c.4078G>T (COL18A1) NP_569711.2:p.Gly1360Cys
NM_130445.4:c.2833G>T (COL18A1) NP_569712.2:p.Gly945Cys
NM_001379500.1:c.2833G>T (COL18A1) MANE Select NP_001366429.1:p.Gly945Cys