Canonical Allele Identifier: CA638170750

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs1211518104
• gnomAD v2: 21-46931734-G-A
• gnomAD v3: 21-45511820-G-A
• gnomAD v4: 21-45511820-G-A
• MyVariant Identifiers: chr21:g.46931734G>A (hg19) ; chr21:g.45511820G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45511820G>A , CM000683.2:g.45511820G>A	GRCh38
NC_000021.8:g.46931734G>A , CM000683.1:g.46931734G>A	GRCh37
NC_000021.7:g.45756162G>A	NCBI36
NG_011903.1:g.111629G>A
NG_028278.2:g.56324C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355480.10:c.4350-368G>A (COL18A1)	ENSP00000347665.5:n.4350-368G>A
ENST00000651438.1:c.3810-368G>A (COL18A1) MANE Select	ENSP00000498485.1:n.3810-368G>A
ENST00000342220.9:c.1854-368G>A (COL18A1)	ENSP00000339118.5:n.1854-368G>A
ENST00000355480.9:c.4350-368G>A (COL18A1)	ENSP00000347665.5:n.4350-368G>A
ENST00000359759.8:c.5055-368G>A (COL18A1)	ENSP00000352798.4:n.5055-368G>A
ENST00000400337.6:c.3810-368G>A (COL18A1)	ENSP00000383191.2:n.3810-368G>A
ENST00000417954.5:c.498-13208C>T (SLC19A1)
ENST00000423214.1:c.764-368G>A (COL18A1)
ENST00000473212.1:n.2136-368G>A (COL18A1)
ENST00000567670.5:c.1294-13208C>T (SLC19A1)	ENSP00000457278.1:n.1294-13208C>T
NM_030582.3:c.4341-368G>A (COL18A1)	NP_085059.2:n.4341-368G>A
NM_130444.2:c.5046-368G>A (COL18A1)	NP_569711.2:n.5046-368G>A
NM_130445.3:c.3801-368G>A (COL18A1)	NP_569712.2:n.3801-368G>A
XM_011529707.1:c.1585-8851C>T (SLC19A1)	XP_011528009.1:n.1585-8851C>T
XM_017028445.2:c.1585-8851C>T (SLC19A1)	XP_016883934.1:n.1585-8851C>T
NM_030582.4:c.4341-368G>A (COL18A1)	NP_085059.2:n.4341-368G>A
NM_130444.3:c.5046-368G>A (COL18A1)	NP_569711.2:n.5046-368G>A
NM_130445.4:c.3801-368G>A (COL18A1)	NP_569712.2:n.3801-368G>A
NM_001379500.1:c.3810-368G>A (COL18A1) MANE Select	NP_001366429.1:n.3810-368G>A