Canonical Allele Identifier: CA339035888

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848666-C-G
• MyVariant Identifiers: chr1:g.24175156C>G (hg19) ; chr1:g.23848666C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848666C>G , CM000663.2:g.23848666C>G	GRCh38
NC_000001.10:g.24175156C>G , CM000663.1:g.24175156C>G	GRCh37
NC_000001.9:g.24047743C>G	NCBI36
NG_013346.1:g.24704G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1143G>C MANE Select	ENSP00000363603.3:p.Lys381Asn
ENST00000374479.3:c.1143G>C	ENSP00000363603.3:p.Lys381Asn
NM_000147.4:c.1143G>C	NP_000138.2:p.Lys381Asn
XM_005245821.1:c.768G>C	XP_005245878.1:p.Lys256Asn
XM_011541167.1:c.510G>C	XP_011539469.1:p.Lys170Asn
XM_005245821.3:c.768G>C	XP_005245878.1:p.Lys256Asn
XM_011541167.3:c.510G>C	XP_011539469.1:p.Lys170Asn
XM_017000905.2:c.840G>C	XP_016856394.1:p.Lys280Asn
NM_000147.5:c.1143G>C MANE Select	NP_000138.2:p.Lys381Asn
NR_174379.1:n.1321G>C
NR_174380.1:n.1370G>C
NR_174381.1:n.1209G>C
NR_174382.1:n.1606G>C