Canonical Allele Identifier: CA339036554

Gene: FUCA1

Linked Data

• dbSNP Id: rs1639195602
• gnomAD v4: 1-23848754-T-G
• MyVariant Identifiers: chr1:g.24175244T>G (hg19) ; chr1:g.23848754T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848754T>G , CM000663.2:g.23848754T>G	GRCh38
NC_000001.10:g.24175244T>G , CM000663.1:g.24175244T>G	GRCh37
NC_000001.9:g.24047831T>G	NCBI36
NG_013346.1:g.24616A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1055A>C MANE Select	ENSP00000363603.3:p.Gln352Pro
ENST00000374479.3:c.1055A>C	ENSP00000363603.3:p.Gln352Pro
NM_000147.4:c.1055A>C	NP_000138.2:p.Gln352Pro
XM_005245821.1:c.680A>C	XP_005245878.1:p.Gln227Pro
XM_011541167.1:c.422A>C	XP_011539469.1:p.Gln141Pro
XM_005245821.3:c.680A>C	XP_005245878.1:p.Gln227Pro
XM_011541167.3:c.422A>C	XP_011539469.1:p.Gln141Pro
XM_017000905.2:c.752A>C	XP_016856394.1:p.Gln251Pro
NM_000147.5:c.1055A>C MANE Select	NP_000138.2:p.Gln352Pro
NR_174379.1:n.1233A>C
NR_174380.1:n.1282A>C
NR_174381.1:n.1121A>C
NR_174382.1:n.1518A>C