Canonical Allele Identifier: CA339036673

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175283A>C (hg19) ; chr1:g.23848793A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848793A>C , CM000663.2:g.23848793A>C	GRCh38
NC_000001.10:g.24175283A>C , CM000663.1:g.24175283A>C	GRCh37
NC_000001.9:g.24047870A>C	NCBI36
NG_013346.1:g.24577T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1016T>G MANE Select	ENSP00000363603.3:p.Ile339Ser
ENST00000374479.3:c.1016T>G	ENSP00000363603.3:p.Ile339Ser
NM_000147.4:c.1016T>G	NP_000138.2:p.Ile339Ser
XM_005245821.1:c.641T>G	XP_005245878.1:p.Ile214Ser
XM_011541167.1:c.383T>G	XP_011539469.1:p.Ile128Ser
XM_005245821.3:c.641T>G	XP_005245878.1:p.Ile214Ser
XM_011541167.3:c.383T>G	XP_011539469.1:p.Ile128Ser
XM_017000905.2:c.713T>G	XP_016856394.1:p.Ile238Ser
NM_000147.5:c.1016T>G MANE Select	NP_000138.2:p.Ile339Ser
NR_174379.1:n.1194T>G
NR_174380.1:n.1243T>G
NR_174381.1:n.1082T>G
NR_174382.1:n.1479T>G