Canonical Allele Identifier: CA339007406

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192015A>T (hg19) ; chr1:g.23865525A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865525A>T , CM000663.2:g.23865525A>T	GRCh38
NC_000001.10:g.24192015A>T , CM000663.1:g.24192015A>T	GRCh37
NC_000001.9:g.24064602A>T	NCBI36
NG_013346.1:g.7845T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.490T>A MANE Select	ENSP00000363603.3:p.Leu164Met
ENST00000374479.3:c.490T>A	ENSP00000363603.3:p.Leu164Met
NM_000147.4:c.490T>A	NP_000138.2:p.Leu164Met
XM_005245821.1:c.115T>A	XP_005245878.1:p.Leu39Met
XM_011541167.1:c.-144T>A	XP_011539469.1:n.-144T>A
XM_005245821.3:c.115T>A	XP_005245878.1:p.Leu39Met
XM_011541167.3:c.-144T>A	XP_011539469.1:n.-144T>A
XM_017000905.2:c.187T>A	XP_016856394.1:p.Leu63Met
NM_000147.5:c.490T>A MANE Select	NP_000138.2:p.Leu164Met
NR_174379.1:n.668T>A
NR_174380.1:n.717T>A
NR_174381.1:n.556T>A
NR_174382.1:n.953T>A