Canonical Allele Identifier: CA410499330

Gene: COL18A1 SLC19A1

Linked Data

• gnomAD v4: 21-45504542-T-A
• MyVariant Identifiers: chr21:g.46924456T>A (hg19) ; chr21:g.45504542T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45504542T>A , CM000683.2:g.45504542T>A	GRCh38
NC_000021.8:g.46924456T>A , CM000683.1:g.46924456T>A	GRCh37
NC_000021.7:g.45748884T>A	NCBI36
NG_011903.1:g.104351T>A
NG_028278.2:g.63602A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.3394T>A (COL18A1)	ENSP00000347665.5:p.Tyr1132Asn
ENST00000651438.1:c.2854T>A (COL18A1) MANE Select	ENSP00000498485.1:p.Tyr952Asn
ENST00000342220.9:c.895T>A (COL18A1)	ENSP00000339118.5:p.Tyr299Asn
ENST00000355480.9:c.3394T>A (COL18A1)	ENSP00000347665.5:p.Tyr1132Asn
ENST00000359759.8:c.4099T>A (COL18A1)	ENSP00000352798.4:p.Tyr1367Asn
ENST00000400337.6:c.2854T>A (COL18A1)	ENSP00000383191.2:p.Tyr952Asn
ENST00000417954.5:c.498-5930A>T (SLC19A1)
ENST00000567670.5:c.1294-5930A>T (SLC19A1)	ENSP00000457278.1:n.1294-5930A>T
NM_030582.3:c.3385T>A (COL18A1)	NP_085059.2:p.Tyr1129Asn
NM_130444.2:c.4090T>A (COL18A1)	NP_569711.2:p.Tyr1364Asn
NM_130445.3:c.2845T>A (COL18A1)	NP_569712.2:p.Tyr949Asn
XM_011529707.1:c.1585-1573A>T (SLC19A1)	XP_011528009.1:n.1585-1573A>T
XM_017028445.2:c.1585-1573A>T (SLC19A1)	XP_016883934.1:n.1585-1573A>T
NM_030582.4:c.3385T>A (COL18A1)	NP_085059.2:p.Tyr1129Asn
NM_130444.3:c.4090T>A (COL18A1)	NP_569711.2:p.Tyr1364Asn
NM_130445.4:c.2845T>A (COL18A1)	NP_569712.2:p.Tyr949Asn
NM_001379500.1:c.2854T>A (COL18A1) MANE Select	NP_001366429.1:p.Tyr952Asn