Canonical Allele Identifier: CA339036548

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175243T>A (hg19) ; chr1:g.23848753T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848753T>A , CM000663.2:g.23848753T>A	GRCh38
NC_000001.10:g.24175243T>A , CM000663.1:g.24175243T>A	GRCh37
NC_000001.9:g.24047830T>A	NCBI36
NG_013346.1:g.24617A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1056A>T MANE Select	ENSP00000363603.3:p.Gln352His
ENST00000374479.3:c.1056A>T	ENSP00000363603.3:p.Gln352His
NM_000147.4:c.1056A>T	NP_000138.2:p.Gln352His
XM_005245821.1:c.681A>T	XP_005245878.1:p.Gln227His
XM_011541167.1:c.423A>T	XP_011539469.1:p.Gln141His
XM_005245821.3:c.681A>T	XP_005245878.1:p.Gln227His
XM_011541167.3:c.423A>T	XP_011539469.1:p.Gln141His
XM_017000905.2:c.753A>T	XP_016856394.1:p.Gln251His
NM_000147.5:c.1056A>T MANE Select	NP_000138.2:p.Gln352His
NR_174379.1:n.1234A>T
NR_174380.1:n.1283A>T
NR_174381.1:n.1122A>T
NR_174382.1:n.1519A>T