Canonical Allele Identifier: CA339036157

Gene: FUCA1

Linked Data

• dbSNP Id: rs1639193206
• MyVariant Identifiers: chr1:g.24175191A>G (hg19) ; chr1:g.23848701A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848701A>G , CM000663.2:g.23848701A>G	GRCh38
NC_000001.10:g.24175191A>G , CM000663.1:g.24175191A>G	GRCh37
NC_000001.9:g.24047778A>G	NCBI36
NG_013346.1:g.24669T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1108T>C MANE Select	ENSP00000363603.3:p.Tyr370His
ENST00000374479.3:c.1108T>C	ENSP00000363603.3:p.Tyr370His
NM_000147.4:c.1108T>C	NP_000138.2:p.Tyr370His
XM_005245821.1:c.733T>C	XP_005245878.1:p.Tyr245His
XM_011541167.1:c.475T>C	XP_011539469.1:p.Tyr159His
XM_005245821.3:c.733T>C	XP_005245878.1:p.Tyr245His
XM_011541167.3:c.475T>C	XP_011539469.1:p.Tyr159His
XM_017000905.2:c.805T>C	XP_016856394.1:p.Tyr269His
NM_000147.5:c.1108T>C MANE Select	NP_000138.2:p.Tyr370His
NR_174379.1:n.1286T>C
NR_174380.1:n.1335T>C
NR_174381.1:n.1174T>C
NR_174382.1:n.1571T>C