Canonical Allele Identifier: CA416626852

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175261C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848771C>A , CM000663.2:g.23848771C>A	GRCh38
NC_000001.10:g.24175261C>A , CM000663.1:g.24175261C>A	GRCh37
NC_000001.9:g.24047848C>A	NCBI36
NG_013346.1:g.24599G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1038G>T MANE Select	ENSP00000363603.3:p.Leu346=
ENST00000374479.3:c.1038G>T	ENSP00000363603.3:p.Leu346=
NM_000147.4:c.1038G>T	NP_000138.2:p.Leu346=
XM_005245821.1:c.663G>T	XP_005245878.1:p.Leu221=
XM_011541167.1:c.405G>T	XP_011539469.1:p.Leu135=
XM_005245821.3:c.663G>T	XP_005245878.1:p.Leu221=
XM_011541167.3:c.405G>T	XP_011539469.1:p.Leu135=
XM_017000905.2:c.735G>T	XP_016856394.1:p.Leu245=
NM_000147.5:c.1038G>T MANE Select	NP_000138.2:p.Leu346=
NR_174379.1:n.1216G>T
NR_174380.1:n.1265G>T
NR_174381.1:n.1104G>T
NR_174382.1:n.1501G>T