Canonical Allele Identifier: CA339007305

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24191990A>C (hg19) ; chr1:g.23865500A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865500A>C , CM000663.2:g.23865500A>C	GRCh38
NC_000001.10:g.24191990A>C , CM000663.1:g.24191990A>C	GRCh37
NC_000001.9:g.24064577A>C	NCBI36
NG_013346.1:g.7870T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.515T>G MANE Select	ENSP00000363603.3:p.Leu172Arg
ENST00000374479.3:c.515T>G	ENSP00000363603.3:p.Leu172Arg
NM_000147.4:c.515T>G	NP_000138.2:p.Leu172Arg
XM_005245821.1:c.140T>G	XP_005245878.1:p.Leu47Arg
XM_011541167.1:c.-119T>G	XP_011539469.1:n.-119T>G
XM_005245821.3:c.140T>G	XP_005245878.1:p.Leu47Arg
XM_011541167.3:c.-119T>G	XP_011539469.1:n.-119T>G
XM_017000905.2:c.212T>G	XP_016856394.1:p.Leu71Arg
NM_000147.5:c.515T>G MANE Select	NP_000138.2:p.Leu172Arg
NR_174379.1:n.693T>G
NR_174380.1:n.742T>G
NR_174381.1:n.581T>G
NR_174382.1:n.978T>G