Canonical Allele Identifier: CA339036138

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175189A>T (hg19) ; chr1:g.23848699A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848699A>T , CM000663.2:g.23848699A>T	GRCh38
NC_000001.10:g.24175189A>T , CM000663.1:g.24175189A>T	GRCh37
NC_000001.9:g.24047776A>T	NCBI36
NG_013346.1:g.24671T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1110T>A MANE Select	ENSP00000363603.3:p.Tyr370Ter
ENST00000374479.3:c.1110T>A	ENSP00000363603.3:p.Tyr370Ter
NM_000147.4:c.1110T>A	NP_000138.2:p.Tyr370Ter
XM_005245821.1:c.735T>A	XP_005245878.1:p.Tyr245Ter
XM_011541167.1:c.477T>A	XP_011539469.1:p.Tyr159Ter
XM_005245821.3:c.735T>A	XP_005245878.1:p.Tyr245Ter
XM_011541167.3:c.477T>A	XP_011539469.1:p.Tyr159Ter
XM_017000905.2:c.807T>A	XP_016856394.1:p.Tyr269Ter
NM_000147.5:c.1110T>A MANE Select	NP_000138.2:p.Tyr370Ter
NR_174379.1:n.1288T>A
NR_174380.1:n.1337T>A
NR_174381.1:n.1176T>A
NR_174382.1:n.1573T>A