Canonical Allele Identifier: CA339007358

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192002A>G (hg19) ; chr1:g.23865512A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865512A>G , CM000663.2:g.23865512A>G	GRCh38
NC_000001.10:g.24192002A>G , CM000663.1:g.24192002A>G	GRCh37
NC_000001.9:g.24064589A>G	NCBI36
NG_013346.1:g.7858T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.503T>C MANE Select	ENSP00000363603.3:p.Leu168Ser
ENST00000374479.3:c.503T>C	ENSP00000363603.3:p.Leu168Ser
NM_000147.4:c.503T>C	NP_000138.2:p.Leu168Ser
XM_005245821.1:c.128T>C	XP_005245878.1:p.Leu43Ser
XM_011541167.1:c.-131T>C	XP_011539469.1:n.-131T>C
XM_005245821.3:c.128T>C	XP_005245878.1:p.Leu43Ser
XM_011541167.3:c.-131T>C	XP_011539469.1:n.-131T>C
XM_017000905.2:c.200T>C	XP_016856394.1:p.Leu67Ser
NM_000147.5:c.503T>C MANE Select	NP_000138.2:p.Leu168Ser
NR_174379.1:n.681T>C
NR_174380.1:n.730T>C
NR_174381.1:n.569T>C
NR_174382.1:n.966T>C