Canonical Allele Identifier: CA339007336

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23865506-G-C
• MyVariant Identifiers: chr1:g.24191996G>C (hg19) ; chr1:g.23865506G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865506G>C , CM000663.2:g.23865506G>C	GRCh38
NC_000001.10:g.24191996G>C , CM000663.1:g.24191996G>C	GRCh37
NC_000001.9:g.24064583G>C	NCBI36
NG_013346.1:g.7864C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.509C>G MANE Select	ENSP00000363603.3:p.Thr170Arg
ENST00000374479.3:c.509C>G	ENSP00000363603.3:p.Thr170Arg
NM_000147.4:c.509C>G	NP_000138.2:p.Thr170Arg
XM_005245821.1:c.134C>G	XP_005245878.1:p.Thr45Arg
XM_011541167.1:c.-125C>G	XP_011539469.1:n.-125C>G
XM_005245821.3:c.134C>G	XP_005245878.1:p.Thr45Arg
XM_011541167.3:c.-125C>G	XP_011539469.1:n.-125C>G
XM_017000905.2:c.206C>G	XP_016856394.1:p.Thr69Arg
NM_000147.5:c.509C>G MANE Select	NP_000138.2:p.Thr170Arg
NR_174379.1:n.687C>G
NR_174380.1:n.736C>G
NR_174381.1:n.575C>G
NR_174382.1:n.972C>G