Canonical Allele Identifier: CA749793546

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs1399850438
• gnomAD v3: 21-45511741-C-T
• gnomAD v4: 21-45511741-C-T
• MyVariant Identifiers: chr21:g.46931655C>T (hg19) ; chr21:g.45511741C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511741C>T , CM000683.2:g.45511741C>T	GRCh38
NC_000021.8:g.46931655C>T , CM000683.1:g.46931655C>T	GRCh37
NC_000021.7:g.45756083C>T	NCBI36
NG_011903.1:g.111550C>T
NG_028278.2:g.56403G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4350-447C>T (COL18A1)	ENSP00000347665.5:n.4350-447C>T
ENST00000651438.1:c.3810-447C>T (COL18A1) MANE Select	ENSP00000498485.1:n.3810-447C>T
ENST00000342220.9:c.1854-447C>T (COL18A1)	ENSP00000339118.5:n.1854-447C>T
ENST00000355480.9:c.4350-447C>T (COL18A1)	ENSP00000347665.5:n.4350-447C>T
ENST00000359759.8:c.5055-447C>T (COL18A1)	ENSP00000352798.4:n.5055-447C>T
ENST00000400337.6:c.3810-447C>T (COL18A1)	ENSP00000383191.2:n.3810-447C>T
ENST00000417954.5:c.498-13129G>A (SLC19A1)
ENST00000423214.1:c.764-447C>T (COL18A1)
ENST00000473212.1:n.2136-447C>T (COL18A1)
ENST00000567670.5:c.1294-13129G>A (SLC19A1)	ENSP00000457278.1:n.1294-13129G>A
NM_030582.3:c.4341-447C>T (COL18A1)	NP_085059.2:n.4341-447C>T
NM_130444.2:c.5046-447C>T (COL18A1)	NP_569711.2:n.5046-447C>T
NM_130445.3:c.3801-447C>T (COL18A1)	NP_569712.2:n.3801-447C>T
XM_011529707.1:c.1585-8772G>A (SLC19A1)	XP_011528009.1:n.1585-8772G>A
XM_017028445.2:c.1585-8772G>A (SLC19A1)	XP_016883934.1:n.1585-8772G>A
NM_030582.4:c.4341-447C>T (COL18A1)	NP_085059.2:n.4341-447C>T
NM_130444.3:c.5046-447C>T (COL18A1)	NP_569711.2:n.5046-447C>T
NM_130445.4:c.3801-447C>T (COL18A1)	NP_569712.2:n.3801-447C>T
NM_001379500.1:c.3810-447C>T (COL18A1) MANE Select	NP_001366429.1:n.3810-447C>T