Canonical Allele Identifier: CA339036052

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175178G>A (hg19) ; chr1:g.23848688G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848688G>A , CM000663.2:g.23848688G>A	GRCh38
NC_000001.10:g.24175178G>A , CM000663.1:g.24175178G>A	GRCh37
NC_000001.9:g.24047765G>A	NCBI36
NG_013346.1:g.24682C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1121C>T MANE Select	ENSP00000363603.3:p.Pro374Leu
ENST00000374479.3:c.1121C>T	ENSP00000363603.3:p.Pro374Leu
NM_000147.4:c.1121C>T	NP_000138.2:p.Pro374Leu
XM_005245821.1:c.746C>T	XP_005245878.1:p.Pro249Leu
XM_011541167.1:c.488C>T	XP_011539469.1:p.Pro163Leu
XM_005245821.3:c.746C>T	XP_005245878.1:p.Pro249Leu
XM_011541167.3:c.488C>T	XP_011539469.1:p.Pro163Leu
XM_017000905.2:c.818C>T	XP_016856394.1:p.Pro273Leu
NM_000147.5:c.1121C>T MANE Select	NP_000138.2:p.Pro374Leu
NR_174379.1:n.1299C>T
NR_174380.1:n.1348C>T
NR_174381.1:n.1187C>T
NR_174382.1:n.1584C>T