Canonical Allele Identifier: CA339009505

Gene: FUCA1

Linked Data

• dbSNP Id: rs1639662292
• gnomAD v3: 1-23868042-T-G
• gnomAD v4: 1-23868042-T-G
• MyVariant Identifiers: chr1:g.24194532T>G (hg19) ; chr1:g.23868042T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23868042T>G , CM000663.2:g.23868042T>G	GRCh38
NC_000001.10:g.24194532T>G , CM000663.1:g.24194532T>G	GRCh37
NC_000001.9:g.24067119T>G	NCBI36
NG_013346.1:g.5328A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.245A>C MANE Select	ENSP00000363603.3:p.Gln82Pro
ENST00000374479.3:c.245A>C	ENSP00000363603.3:p.Gln82Pro
NM_000147.4:c.245A>C	NP_000138.2:p.Gln82Pro
XM_005245821.1:c.-305A>C	XP_005245878.1:n.-305A>C
XM_005245821.3:c.-305A>C	XP_005245878.1:n.-305A>C
NM_000147.5:c.245A>C MANE Select	NP_000138.2:p.Gln82Pro
NR_174379.1:n.249A>C
NR_174380.1:n.249A>C
NR_174381.1:n.249A>C
NR_174382.1:n.249A>C