Canonical Allele Identifier: CA416626826

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175231A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848741A>G , CM000663.2:g.23848741A>G	GRCh38
NC_000001.10:g.24175231A>G , CM000663.1:g.24175231A>G	GRCh37
NC_000001.9:g.24047818A>G	NCBI36
NG_013346.1:g.24629T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1068T>C MANE Select	ENSP00000363603.3:p.Leu356=
ENST00000374479.3:c.1068T>C	ENSP00000363603.3:p.Leu356=
NM_000147.4:c.1068T>C	NP_000138.2:p.Leu356=
XM_005245821.1:c.693T>C	XP_005245878.1:p.Leu231=
XM_011541167.1:c.435T>C	XP_011539469.1:p.Leu145=
XM_005245821.3:c.693T>C	XP_005245878.1:p.Leu231=
XM_011541167.3:c.435T>C	XP_011539469.1:p.Leu145=
XM_017000905.2:c.765T>C	XP_016856394.1:p.Leu255=
NM_000147.5:c.1068T>C MANE Select	NP_000138.2:p.Leu356=
NR_174379.1:n.1246T>C
NR_174380.1:n.1295T>C
NR_174381.1:n.1134T>C
NR_174382.1:n.1531T>C