Canonical Allele Identifier: CA416626821

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175228A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848738A>C , CM000663.2:g.23848738A>C	GRCh38
NC_000001.10:g.24175228A>C , CM000663.1:g.24175228A>C	GRCh37
NC_000001.9:g.24047815A>C	NCBI36
NG_013346.1:g.24632T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1071T>G MANE Select	ENSP00000363603.3:p.Ala357=
ENST00000374479.3:c.1071T>G	ENSP00000363603.3:p.Ala357=
NM_000147.4:c.1071T>G	NP_000138.2:p.Ala357=
XM_005245821.1:c.696T>G	XP_005245878.1:p.Ala232=
XM_011541167.1:c.438T>G	XP_011539469.1:p.Ala146=
XM_005245821.3:c.696T>G	XP_005245878.1:p.Ala232=
XM_011541167.3:c.438T>G	XP_011539469.1:p.Ala146=
XM_017000905.2:c.768T>G	XP_016856394.1:p.Ala256=
NM_000147.5:c.1071T>G MANE Select	NP_000138.2:p.Ala357=
NR_174379.1:n.1249T>G
NR_174380.1:n.1298T>G
NR_174381.1:n.1137T>G
NR_174382.1:n.1534T>G