Canonical Allele Identifier: CA339007580

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23865562-C-G
• MyVariant Identifiers: chr1:g.24192052C>G (hg19) ; chr1:g.23865562C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865562C>G , CM000663.2:g.23865562C>G	GRCh38
NC_000001.10:g.24192052C>G , CM000663.1:g.24192052C>G	GRCh37
NC_000001.9:g.24064639C>G	NCBI36
NG_013346.1:g.7808G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.453G>C MANE Select	ENSP00000363603.3:p.Trp151Cys
ENST00000374479.3:c.453G>C	ENSP00000363603.3:p.Trp151Cys
NM_000147.4:c.453G>C	NP_000138.2:p.Trp151Cys
XM_005245821.1:c.78G>C	XP_005245878.1:p.Trp26Cys
XM_011541167.1:c.-181G>C	XP_011539469.1:n.-181G>C
XM_005245821.3:c.78G>C	XP_005245878.1:p.Trp26Cys
XM_011541167.3:c.-181G>C	XP_011539469.1:n.-181G>C
XM_017000905.2:c.150G>C	XP_016856394.1:p.Trp50Cys
NM_000147.5:c.453G>C MANE Select	NP_000138.2:p.Trp151Cys
NR_174379.1:n.631G>C
NR_174380.1:n.680G>C
NR_174381.1:n.519G>C
NR_174382.1:n.916G>C