Canonical Allele Identifier: CA339035963

Gene: FUCA1

Linked Data

• COSMIC: COSM1667261
• MyVariant Identifiers: chr1:g.24175165T>A (hg19) ; chr1:g.23848675T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848675T>A , CM000663.2:g.23848675T>A	GRCh38
NC_000001.10:g.24175165T>A , CM000663.1:g.24175165T>A	GRCh37
NC_000001.9:g.24047752T>A	NCBI36
NG_013346.1:g.24695A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1134A>T MANE Select	ENSP00000363603.3:p.Gln378His
ENST00000374479.3:c.1134A>T	ENSP00000363603.3:p.Gln378His
NM_000147.4:c.1134A>T	NP_000138.2:p.Gln378His
XM_005245821.1:c.759A>T	XP_005245878.1:p.Gln253His
XM_011541167.1:c.501A>T	XP_011539469.1:p.Gln167His
XM_005245821.3:c.759A>T	XP_005245878.1:p.Gln253His
XM_011541167.3:c.501A>T	XP_011539469.1:p.Gln167His
XM_017000905.2:c.831A>T	XP_016856394.1:p.Gln277His
NM_000147.5:c.1134A>T MANE Select	NP_000138.2:p.Gln378His
NR_174379.1:n.1312A>T
NR_174380.1:n.1361A>T
NR_174381.1:n.1200A>T
NR_174382.1:n.1597A>T