Canonical Allele Identifier: CA339036650

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175271T>G (hg19) ; chr1:g.23848781T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848781T>G , CM000663.2:g.23848781T>G	GRCh38
NC_000001.10:g.24175271T>G , CM000663.1:g.24175271T>G	GRCh37
NC_000001.9:g.24047858T>G	NCBI36
NG_013346.1:g.24589A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1028A>C MANE Select	ENSP00000363603.3:p.Lys343Thr
ENST00000374479.3:c.1028A>C	ENSP00000363603.3:p.Lys343Thr
NM_000147.4:c.1028A>C	NP_000138.2:p.Lys343Thr
XM_005245821.1:c.653A>C	XP_005245878.1:p.Lys218Thr
XM_011541167.1:c.395A>C	XP_011539469.1:p.Lys132Thr
XM_005245821.3:c.653A>C	XP_005245878.1:p.Lys218Thr
XM_011541167.3:c.395A>C	XP_011539469.1:p.Lys132Thr
XM_017000905.2:c.725A>C	XP_016856394.1:p.Lys242Thr
NM_000147.5:c.1028A>C MANE Select	NP_000138.2:p.Lys343Thr
NR_174379.1:n.1206A>C
NR_174380.1:n.1255A>C
NR_174381.1:n.1094A>C
NR_174382.1:n.1491A>C