Canonical Allele Identifier: CA339036635

Gene: FUCA1

Linked Data

• dbSNP Id: rs1639196637
• MyVariant Identifiers: chr1:g.24175263G>C (hg19) ; chr1:g.23848773G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848773G>C , CM000663.2:g.23848773G>C	GRCh38
NC_000001.10:g.24175263G>C , CM000663.1:g.24175263G>C	GRCh37
NC_000001.9:g.24047850G>C	NCBI36
NG_013346.1:g.24597C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1036C>G MANE Select	ENSP00000363603.3:p.Leu346Val
ENST00000374479.3:c.1036C>G	ENSP00000363603.3:p.Leu346Val
NM_000147.4:c.1036C>G	NP_000138.2:p.Leu346Val
XM_005245821.1:c.661C>G	XP_005245878.1:p.Leu221Val
XM_011541167.1:c.403C>G	XP_011539469.1:p.Leu135Val
XM_005245821.3:c.661C>G	XP_005245878.1:p.Leu221Val
XM_011541167.3:c.403C>G	XP_011539469.1:p.Leu135Val
XM_017000905.2:c.733C>G	XP_016856394.1:p.Leu245Val
NM_000147.5:c.1036C>G MANE Select	NP_000138.2:p.Leu346Val
NR_174379.1:n.1214C>G
NR_174380.1:n.1263C>G
NR_174381.1:n.1102C>G
NR_174382.1:n.1499C>G