Canonical Allele Identifier: CA416605274

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23865496-C-G
• MyVariant Identifiers: chr1:g.24191986C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865496C>G , CM000663.2:g.23865496C>G	GRCh38
NC_000001.10:g.24191986C>G , CM000663.1:g.24191986C>G	GRCh37
NC_000001.9:g.24064573C>G	NCBI36
NG_013346.1:g.7874G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.519G>C MANE Select	ENSP00000363603.3:p.Arg173=
ENST00000374479.3:c.519G>C	ENSP00000363603.3:p.Arg173=
NM_000147.4:c.519G>C	NP_000138.2:p.Arg173=
XM_005245821.1:c.144G>C	XP_005245878.1:p.Arg48=
XM_011541167.1:c.-115G>C	XP_011539469.1:n.-115G>C
XM_005245821.3:c.144G>C	XP_005245878.1:p.Arg48=
XM_011541167.3:c.-115G>C	XP_011539469.1:n.-115G>C
XM_017000905.2:c.216G>C	XP_016856394.1:p.Arg72=
NM_000147.5:c.519G>C MANE Select	NP_000138.2:p.Arg173=
NR_174379.1:n.697G>C
NR_174380.1:n.746G>C
NR_174381.1:n.585G>C
NR_174382.1:n.982G>C