Canonical Allele Identifier: CA339035757

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848650-A-G
• MyVariant Identifiers: chr1:g.24175140A>G (hg19) ; chr1:g.23848650A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848650A>G , CM000663.2:g.23848650A>G	GRCh38
NC_000001.10:g.24175140A>G , CM000663.1:g.24175140A>G	GRCh37
NC_000001.9:g.24047727A>G	NCBI36
NG_013346.1:g.24720T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1159T>C MANE Select	ENSP00000363603.3:p.Trp387Arg
ENST00000374479.3:c.1159T>C	ENSP00000363603.3:p.Trp387Arg
NM_000147.4:c.1159T>C	NP_000138.2:p.Trp387Arg
XM_005245821.1:c.784T>C	XP_005245878.1:p.Trp262Arg
XM_011541167.1:c.526T>C	XP_011539469.1:p.Trp176Arg
XM_005245821.3:c.784T>C	XP_005245878.1:p.Trp262Arg
XM_011541167.3:c.526T>C	XP_011539469.1:p.Trp176Arg
XM_017000905.2:c.856T>C	XP_016856394.1:p.Trp286Arg
NM_000147.5:c.1159T>C MANE Select	NP_000138.2:p.Trp387Arg
NR_174379.1:n.1337T>C
NR_174380.1:n.1386T>C
NR_174381.1:n.1225T>C
NR_174382.1:n.1622T>C