Canonical Allele Identifier: CA410499336

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs528980728
• gnomAD v2: 21-46924459-C-A
• gnomAD v4: 21-45504545-C-A
• MyVariant Identifiers: chr21:g.46924459C>A (hg19) ; chr21:g.45504545C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504545C>A , CM000683.2:g.45504545C>A	GRCh38
NC_000021.8:g.46924459C>A , CM000683.1:g.46924459C>A	GRCh37
NC_000021.7:g.45748887C>A	NCBI36
NG_011903.1:g.104354C>A
NG_028278.2:g.63599G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3397C>A (COL18A1)	ENSP00000347665.5:p.Pro1133Thr
ENST00000651438.1:c.2857C>A (COL18A1) MANE Select	ENSP00000498485.1:p.Pro953Thr
ENST00000342220.9:c.898C>A (COL18A1)	ENSP00000339118.5:p.Pro300Thr
ENST00000355480.9:c.3397C>A (COL18A1)	ENSP00000347665.5:p.Pro1133Thr
ENST00000359759.8:c.4102C>A (COL18A1)	ENSP00000352798.4:p.Pro1368Thr
ENST00000400337.6:c.2857C>A (COL18A1)	ENSP00000383191.2:p.Pro953Thr
ENST00000417954.5:c.498-5933G>T (SLC19A1)
ENST00000567670.5:c.1294-5933G>T (SLC19A1)	ENSP00000457278.1:n.1294-5933G>T
NM_030582.3:c.3388C>A (COL18A1)	NP_085059.2:p.Pro1130Thr
NM_130444.2:c.4093C>A (COL18A1)	NP_569711.2:p.Pro1365Thr
NM_130445.3:c.2848C>A (COL18A1)	NP_569712.2:p.Pro950Thr
XM_011529707.1:c.1585-1576G>T (SLC19A1)	XP_011528009.1:n.1585-1576G>T
XM_017028445.2:c.1585-1576G>T (SLC19A1)	XP_016883934.1:n.1585-1576G>T
NM_030582.4:c.3388C>A (COL18A1)	NP_085059.2:p.Pro1130Thr
NM_130444.3:c.4093C>A (COL18A1)	NP_569711.2:p.Pro1365Thr
NM_130445.4:c.2848C>A (COL18A1)	NP_569712.2:p.Pro950Thr
NM_001379500.1:c.2857C>A (COL18A1) MANE Select	NP_001366429.1:p.Pro953Thr