Canonical Allele Identifier: CA339036662

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175277G>T (hg19) ; chr1:g.23848787G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848787G>T , CM000663.2:g.23848787G>T	GRCh38
NC_000001.10:g.24175277G>T , CM000663.1:g.24175277G>T	GRCh37
NC_000001.9:g.24047864G>T	NCBI36
NG_013346.1:g.24583C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1022C>A MANE Select	ENSP00000363603.3:p.Pro341Gln
ENST00000374479.3:c.1022C>A	ENSP00000363603.3:p.Pro341Gln
NM_000147.4:c.1022C>A	NP_000138.2:p.Pro341Gln
XM_005245821.1:c.647C>A	XP_005245878.1:p.Pro216Gln
XM_011541167.1:c.389C>A	XP_011539469.1:p.Pro130Gln
XM_005245821.3:c.647C>A	XP_005245878.1:p.Pro216Gln
XM_011541167.3:c.389C>A	XP_011539469.1:p.Pro130Gln
XM_017000905.2:c.719C>A	XP_016856394.1:p.Pro240Gln
NM_000147.5:c.1022C>A MANE Select	NP_000138.2:p.Pro341Gln
NR_174379.1:n.1200C>A
NR_174380.1:n.1249C>A
NR_174381.1:n.1088C>A
NR_174382.1:n.1485C>A