Canonical Allele Identifier: CA686352

Gene: FUCA1

Linked Data

• dbSNP Id: rs773823561
• ExAC: 1:24175166 T / A
• gnomAD v2: 1-24175166-T-A
• gnomAD v4: 1-23848676-T-A
• MyVariant Identifiers: chr1:g.24175166T>A (hg19) ; chr1:g.23848676T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848676T>A , CM000663.2:g.23848676T>A	GRCh38
NC_000001.10:g.24175166T>A , CM000663.1:g.24175166T>A	GRCh37
NC_000001.9:g.24047753T>A	NCBI36
NG_013346.1:g.24694A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1133A>T MANE Select	ENSP00000363603.3:p.Gln378Leu
ENST00000374479.3:c.1133A>T	ENSP00000363603.3:p.Gln378Leu
NM_000147.4:c.1133A>T	NP_000138.2:p.Gln378Leu
XM_005245821.1:c.758A>T	XP_005245878.1:p.Gln253Leu
XM_011541167.1:c.500A>T	XP_011539469.1:p.Gln167Leu
XM_005245821.3:c.758A>T	XP_005245878.1:p.Gln253Leu
XM_011541167.3:c.500A>T	XP_011539469.1:p.Gln167Leu
XM_017000905.2:c.830A>T	XP_016856394.1:p.Gln277Leu
NM_000147.5:c.1133A>T MANE Select	NP_000138.2:p.Gln378Leu
NR_174379.1:n.1311A>T
NR_174380.1:n.1360A>T
NR_174381.1:n.1199A>T
NR_174382.1:n.1596A>T