Canonical Allele Identifier: CA339036462

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175227C>G (hg19) ; chr1:g.23848737C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848737C>G , CM000663.2:g.23848737C>G	GRCh38
NC_000001.10:g.24175227C>G , CM000663.1:g.24175227C>G	GRCh37
NC_000001.9:g.24047814C>G	NCBI36
NG_013346.1:g.24633G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1072G>C MANE Select	ENSP00000363603.3:p.Val358Leu
ENST00000374479.3:c.1072G>C	ENSP00000363603.3:p.Val358Leu
NM_000147.4:c.1072G>C	NP_000138.2:p.Val358Leu
XM_005245821.1:c.697G>C	XP_005245878.1:p.Val233Leu
XM_011541167.1:c.439G>C	XP_011539469.1:p.Val147Leu
XM_005245821.3:c.697G>C	XP_005245878.1:p.Val233Leu
XM_011541167.3:c.439G>C	XP_011539469.1:p.Val147Leu
XM_017000905.2:c.769G>C	XP_016856394.1:p.Val257Leu
NM_000147.5:c.1072G>C MANE Select	NP_000138.2:p.Val358Leu
NR_174379.1:n.1250G>C
NR_174380.1:n.1299G>C
NR_174381.1:n.1138G>C
NR_174382.1:n.1535G>C