Canonical Allele Identifier: CA686530

Gene: FUCA1

Linked Data

• dbSNP Id: rs756186671
• ExAC: 1:24191996 G / T
• gnomAD v2: 1-24191996-G-T
• gnomAD v4: 1-23865506-G-T
• MyVariant Identifiers: chr1:g.24191996G>T (hg19) ; chr1:g.23865506G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.509C>A MANE Select	ENSP00000363603.3:p.Thr170Lys
ENST00000374479.3:c.509C>A	ENSP00000363603.3:p.Thr170Lys
NM_000147.4:c.509C>A	NP_000138.2:p.Thr170Lys
XM_005245821.1:c.134C>A	XP_005245878.1:p.Thr45Lys
XM_011541167.1:c.-125C>A	XP_011539469.1:n.-125C>A
XM_005245821.3:c.134C>A	XP_005245878.1:p.Thr45Lys
XM_011541167.3:c.-125C>A	XP_011539469.1:n.-125C>A
XM_017000905.2:c.206C>A	XP_016856394.1:p.Thr69Lys
NM_000147.5:c.509C>A MANE Select	NP_000138.2:p.Thr170Lys
NR_174379.1:n.687C>A
NR_174380.1:n.736C>A
NR_174381.1:n.575C>A
NR_174382.1:n.972C>A