Canonical Allele Identifier: CA339036494

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848743-G-T
• MyVariant Identifiers: chr1:g.24175233G>T (hg19) ; chr1:g.23848743G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848743G>T , CM000663.2:g.23848743G>T	GRCh38
NC_000001.10:g.24175233G>T , CM000663.1:g.24175233G>T	GRCh37
NC_000001.9:g.24047820G>T	NCBI36
NG_013346.1:g.24627C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1066C>A MANE Select	ENSP00000363603.3:p.Leu356Ile
ENST00000374479.3:c.1066C>A	ENSP00000363603.3:p.Leu356Ile
NM_000147.4:c.1066C>A	NP_000138.2:p.Leu356Ile
XM_005245821.1:c.691C>A	XP_005245878.1:p.Leu231Ile
XM_011541167.1:c.433C>A	XP_011539469.1:p.Leu145Ile
XM_005245821.3:c.691C>A	XP_005245878.1:p.Leu231Ile
XM_011541167.3:c.433C>A	XP_011539469.1:p.Leu145Ile
XM_017000905.2:c.763C>A	XP_016856394.1:p.Leu255Ile
NM_000147.5:c.1066C>A MANE Select	NP_000138.2:p.Leu356Ile
NR_174379.1:n.1244C>A
NR_174380.1:n.1293C>A
NR_174381.1:n.1132C>A
NR_174382.1:n.1529C>A