Canonical Allele Identifier: CA1022829067

Gene: COL18A1 SLC19A1

Linked Data

• dbSNP Id: rs548557308
• gnomAD v3: 21-45510007-G-C
• gnomAD v4: 21-45510007-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45510007G>C , CM000683.2:g.45510007G>C	GRCh38
NC_000021.8:g.46929921G>C , CM000683.1:g.46929921G>C	GRCh37
NC_000021.7:g.45754349G>C	NCBI36
NG_011903.1:g.109816G>C
NG_028278.2:g.58137C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355480.10:c.4036-57G>C (COL18A1)	ENSP00000347665.5:n.4036-57G>C
ENST00000651438.1:c.3496-57G>C (COL18A1) MANE Select	ENSP00000498485.1:n.3496-57G>C
ENST00000342220.9:c.1540-57G>C (COL18A1)	ENSP00000339118.5:n.1540-57G>C
ENST00000355480.9:c.4036-57G>C (COL18A1)	ENSP00000347665.5:n.4036-57G>C
ENST00000359759.8:c.4741-57G>C (COL18A1)	ENSP00000352798.4:n.4741-57G>C
ENST00000400337.6:c.3496-57G>C (COL18A1)	ENSP00000383191.2:n.3496-57G>C
ENST00000417954.5:c.498-11395C>G (SLC19A1)
ENST00000423214.1:c.450-57G>C (COL18A1)
ENST00000473212.1:n.1822-57G>C (COL18A1)
ENST00000567670.5:c.1294-11395C>G (SLC19A1)	ENSP00000457278.1:n.1294-11395C>G
NM_030582.3:c.4027-57G>C (COL18A1)	NP_085059.2:n.4027-57G>C
NM_130444.2:c.4732-57G>C (COL18A1)	NP_569711.2:n.4732-57G>C
NM_130445.3:c.3487-57G>C (COL18A1)	NP_569712.2:n.3487-57G>C
XM_011529707.1:c.1585-7038C>G (SLC19A1)	XP_011528009.1:n.1585-7038C>G
XM_017028445.2:c.1585-7038C>G (SLC19A1)	XP_016883934.1:n.1585-7038C>G
NM_030582.4:c.4027-57G>C (COL18A1)	NP_085059.2:n.4027-57G>C
NM_130444.3:c.4732-57G>C (COL18A1)	NP_569711.2:n.4732-57G>C
NM_130445.4:c.3487-57G>C (COL18A1)	NP_569712.2:n.3487-57G>C
NM_001379500.1:c.3496-57G>C (COL18A1) MANE Select	NP_001366429.1:n.3496-57G>C