Canonical Allele Identifier: CA686361

Gene: FUCA1

Linked Data

• dbSNP Id: rs750510122
• ExAC: 1:24175182 T / C
• gnomAD v2: 1-24175182-T-C
• gnomAD v4: 1-23848692-T-C
• MyVariant Identifiers: chr1:g.24175182T>C (hg19) ; chr1:g.23848692T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848692T>C , CM000663.2:g.23848692T>C	GRCh38
NC_000001.10:g.24175182T>C , CM000663.1:g.24175182T>C	GRCh37
NC_000001.9:g.24047769T>C	NCBI36
NG_013346.1:g.24678A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1117A>G MANE Select	ENSP00000363603.3:p.Lys373Glu
ENST00000374479.3:c.1117A>G	ENSP00000363603.3:p.Lys373Glu
NM_000147.4:c.1117A>G	NP_000138.2:p.Lys373Glu
XM_005245821.1:c.742A>G	XP_005245878.1:p.Lys248Glu
XM_011541167.1:c.484A>G	XP_011539469.1:p.Lys162Glu
XM_005245821.3:c.742A>G	XP_005245878.1:p.Lys248Glu
XM_011541167.3:c.484A>G	XP_011539469.1:p.Lys162Glu
XM_017000905.2:c.814A>G	XP_016856394.1:p.Lys272Glu
NM_000147.5:c.1117A>G MANE Select	NP_000138.2:p.Lys373Glu
NR_174379.1:n.1295A>G
NR_174380.1:n.1344A>G
NR_174381.1:n.1183A>G
NR_174382.1:n.1580A>G