Canonical Allele Identifier: CA339036178

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848703-A-G
• MyVariant Identifiers: chr1:g.24175193A>G (hg19) ; chr1:g.23848703A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848703A>G , CM000663.2:g.23848703A>G	GRCh38
NC_000001.10:g.24175193A>G , CM000663.1:g.24175193A>G	GRCh37
NC_000001.9:g.24047780A>G	NCBI36
NG_013346.1:g.24667T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1106T>C MANE Select	ENSP00000363603.3:p.Ile369Thr
ENST00000374479.3:c.1106T>C	ENSP00000363603.3:p.Ile369Thr
NM_000147.4:c.1106T>C	NP_000138.2:p.Ile369Thr
XM_005245821.1:c.731T>C	XP_005245878.1:p.Ile244Thr
XM_011541167.1:c.473T>C	XP_011539469.1:p.Ile158Thr
XM_005245821.3:c.731T>C	XP_005245878.1:p.Ile244Thr
XM_011541167.3:c.473T>C	XP_011539469.1:p.Ile158Thr
XM_017000905.2:c.803T>C	XP_016856394.1:p.Ile268Thr
NM_000147.5:c.1106T>C MANE Select	NP_000138.2:p.Ile369Thr
NR_174379.1:n.1284T>C
NR_174380.1:n.1333T>C
NR_174381.1:n.1172T>C
NR_174382.1:n.1569T>C