Canonical Allele Identifier: CA416605362

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192061A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865571A>T , CM000663.2:g.23865571A>T	GRCh38
NC_000001.10:g.24192061A>T , CM000663.1:g.24192061A>T	GRCh37
NC_000001.9:g.24064648A>T	NCBI36
NG_013346.1:g.7799T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.444T>A MANE Select	ENSP00000363603.3:p.Pro148=
ENST00000374479.3:c.444T>A	ENSP00000363603.3:p.Pro148=
NM_000147.4:c.444T>A	NP_000138.2:p.Pro148=
XM_005245821.1:c.69T>A	XP_005245878.1:p.Pro23=
XM_011541167.1:c.-190T>A	XP_011539469.1:n.-190T>A
XM_005245821.3:c.69T>A	XP_005245878.1:p.Pro23=
XM_011541167.3:c.-190T>A	XP_011539469.1:n.-190T>A
XM_017000905.2:c.141T>A	XP_016856394.1:p.Pro47=
NM_000147.5:c.444T>A MANE Select	NP_000138.2:p.Pro148=
NR_174379.1:n.622T>A
NR_174380.1:n.671T>A
NR_174381.1:n.510T>A
NR_174382.1:n.907T>A