Canonical Allele Identifier: CA339035971

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175167G>A (hg19) ; chr1:g.23848677G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848677G>A , CM000663.2:g.23848677G>A	GRCh38
NC_000001.10:g.24175167G>A , CM000663.1:g.24175167G>A	GRCh37
NC_000001.9:g.24047754G>A	NCBI36
NG_013346.1:g.24693C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1132C>T MANE Select	ENSP00000363603.3:p.Gln378Ter
ENST00000374479.3:c.1132C>T	ENSP00000363603.3:p.Gln378Ter
NM_000147.4:c.1132C>T	NP_000138.2:p.Gln378Ter
XM_005245821.1:c.757C>T	XP_005245878.1:p.Gln253Ter
XM_011541167.1:c.499C>T	XP_011539469.1:p.Gln167Ter
XM_005245821.3:c.757C>T	XP_005245878.1:p.Gln253Ter
XM_011541167.3:c.499C>T	XP_011539469.1:p.Gln167Ter
XM_017000905.2:c.829C>T	XP_016856394.1:p.Gln277Ter
NM_000147.5:c.1132C>T MANE Select	NP_000138.2:p.Gln378Ter
NR_174379.1:n.1310C>T
NR_174380.1:n.1359C>T
NR_174381.1:n.1198C>T
NR_174382.1:n.1595C>T