Canonical Allele Identifier: CA521657020

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23846178G>A , CM000663.2:g.23846178G>A	GRCh38
NC_000001.10:g.24172668G>A , CM000663.1:g.24172668G>A	GRCh37
NC_000001.9:g.24045255G>A	NCBI36
NG_013346.1:g.27192C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.1161-5C>T MANE Select	NP_000138.2:n.1161-5C>T
ENST00000374479.4:c.1161-5C>T MANE Select	ENSP00000363603.3:n.1161-5C>T
NM_000147.4:c.1161-5C>T	NP_000138.2:n.1161-5C>T
NR_174379.1:n.1339-5C>T
NR_174380.1:n.1388-5C>T
NR_174381.1:n.1227-5C>T
NR_174382.1:n.1624-5C>T
ENST00000374479.3:c.1161-5C>T	ENSP00000363603.3:n.1161-5C>T
XM_005245821.1:c.786-5C>T	XP_005245878.1:n.786-5C>T
XM_005245821.3:c.786-5C>T	XP_005245878.1:n.786-5C>T
XM_011541167.1:c.528-5C>T	XP_011539469.1:n.528-5C>T
XM_011541167.3:c.528-5C>T	XP_011539469.1:n.528-5C>T
XM_017000905.2:c.858-5C>T	XP_016856394.1:n.858-5C>T