Canonical Allele Identifier: CA339034859

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23846170A>C , CM000663.2:g.23846170A>C	GRCh38
NC_000001.10:g.24172660A>C , CM000663.1:g.24172660A>C	GRCh37
NC_000001.9:g.24045247A>C	NCBI36
NG_013346.1:g.27200T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1164T>G MANE Select	ENSP00000363603.3:p.Tyr388Ter
ENST00000374479.3:c.1164T>G	ENSP00000363603.3:p.Tyr388Ter
NM_000147.4:c.1164T>G	NP_000138.2:p.Tyr388Ter
XM_005245821.1:c.789T>G	XP_005245878.1:p.Tyr263Ter
XM_011541167.1:c.531T>G	XP_011539469.1:p.Tyr177Ter
XM_005245821.3:c.789T>G	XP_005245878.1:p.Tyr263Ter
XM_011541167.3:c.531T>G	XP_011539469.1:p.Tyr177Ter
XM_017000905.2:c.861T>G	XP_016856394.1:p.Tyr287Ter
NM_000147.5:c.1164T>G MANE Select	NP_000138.2:p.Tyr388Ter
NR_174379.1:n.1342T>G
NR_174380.1:n.1391T>G
NR_174381.1:n.1230T>G
NR_174382.1:n.1627T>G