Canonical Allele Identifier: CA339035968

Gene: FUCA1

Linked Data

• dbSNP Id: rs773823561
• gnomAD v3: 1-23848676-T-G
• gnomAD v4: 1-23848676-T-G
• MyVariant Identifiers: chr1:g.24175166T>G (hg19) ; chr1:g.23848676T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848676T>G , CM000663.2:g.23848676T>G	GRCh38
NC_000001.10:g.24175166T>G , CM000663.1:g.24175166T>G	GRCh37
NC_000001.9:g.24047753T>G	NCBI36
NG_013346.1:g.24694A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1133A>C MANE Select	ENSP00000363603.3:p.Gln378Pro
ENST00000374479.3:c.1133A>C	ENSP00000363603.3:p.Gln378Pro
NM_000147.4:c.1133A>C	NP_000138.2:p.Gln378Pro
XM_005245821.1:c.758A>C	XP_005245878.1:p.Gln253Pro
XM_011541167.1:c.500A>C	XP_011539469.1:p.Gln167Pro
XM_005245821.3:c.758A>C	XP_005245878.1:p.Gln253Pro
XM_011541167.3:c.500A>C	XP_011539469.1:p.Gln167Pro
XM_017000905.2:c.830A>C	XP_016856394.1:p.Gln277Pro
NM_000147.5:c.1133A>C MANE Select	NP_000138.2:p.Gln378Pro
NR_174379.1:n.1311A>C
NR_174380.1:n.1360A>C
NR_174381.1:n.1199A>C
NR_174382.1:n.1596A>C