Canonical Allele Identifier: CA339035990

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175170C>G (hg19) ; chr1:g.23848680C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848680C>G , CM000663.2:g.23848680C>G	GRCh38
NC_000001.10:g.24175170C>G , CM000663.1:g.24175170C>G	GRCh37
NC_000001.9:g.24047757C>G	NCBI36
NG_013346.1:g.24690G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1129G>C MANE Select	ENSP00000363603.3:p.Val377Leu
ENST00000374479.3:c.1129G>C	ENSP00000363603.3:p.Val377Leu
NM_000147.4:c.1129G>C	NP_000138.2:p.Val377Leu
XM_005245821.1:c.754G>C	XP_005245878.1:p.Val252Leu
XM_011541167.1:c.496G>C	XP_011539469.1:p.Val166Leu
XM_005245821.3:c.754G>C	XP_005245878.1:p.Val252Leu
XM_011541167.3:c.496G>C	XP_011539469.1:p.Val166Leu
XM_017000905.2:c.826G>C	XP_016856394.1:p.Val276Leu
NM_000147.5:c.1129G>C MANE Select	NP_000138.2:p.Val377Leu
NR_174379.1:n.1307G>C
NR_174380.1:n.1356G>C
NR_174381.1:n.1195G>C
NR_174382.1:n.1592G>C