Canonical Allele Identifier: CA686360

Gene: FUCA1

Linked Data

• dbSNP Id: rs765338950
• ExAC: 1:24175181 T / G
• gnomAD v2: 1-24175181-T-G
• gnomAD v4: 1-23848691-T-G
• MyVariant Identifiers: chr1:g.24175181T>G (hg19) ; chr1:g.23848691T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848691T>G , CM000663.2:g.23848691T>G	GRCh38
NC_000001.10:g.24175181T>G , CM000663.1:g.24175181T>G	GRCh37
NC_000001.9:g.24047768T>G	NCBI36
NG_013346.1:g.24679A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1118A>C MANE Select	ENSP00000363603.3:p.Lys373Thr
ENST00000374479.3:c.1118A>C	ENSP00000363603.3:p.Lys373Thr
NM_000147.4:c.1118A>C	NP_000138.2:p.Lys373Thr
XM_005245821.1:c.743A>C	XP_005245878.1:p.Lys248Thr
XM_011541167.1:c.485A>C	XP_011539469.1:p.Lys162Thr
XM_005245821.3:c.743A>C	XP_005245878.1:p.Lys248Thr
XM_011541167.3:c.485A>C	XP_011539469.1:p.Lys162Thr
XM_017000905.2:c.815A>C	XP_016856394.1:p.Lys272Thr
NM_000147.5:c.1118A>C MANE Select	NP_000138.2:p.Lys373Thr
NR_174379.1:n.1296A>C
NR_174380.1:n.1345A>C
NR_174381.1:n.1184A>C
NR_174382.1:n.1581A>C