Canonical Allele Identifier: CA339036749

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175319T>G (hg19) ; chr1:g.23848829T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848829T>G , CM000663.2:g.23848829T>G	GRCh38
NC_000001.10:g.24175319T>G , CM000663.1:g.24175319T>G	GRCh37
NC_000001.9:g.24047906T>G	NCBI36
NG_013346.1:g.24541A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.980A>C MANE Select	ENSP00000363603.3:p.Gln327Pro
ENST00000374479.3:c.980A>C	ENSP00000363603.3:p.Gln327Pro
NM_000147.4:c.980A>C	NP_000138.2:p.Gln327Pro
XM_005245821.1:c.605A>C	XP_005245878.1:p.Gln202Pro
XM_011541167.1:c.347A>C	XP_011539469.1:p.Gln116Pro
XM_005245821.3:c.605A>C	XP_005245878.1:p.Gln202Pro
XM_011541167.3:c.347A>C	XP_011539469.1:p.Gln116Pro
XM_017000905.2:c.677A>C	XP_016856394.1:p.Gln226Pro
NM_000147.5:c.980A>C MANE Select	NP_000138.2:p.Gln327Pro
NR_174379.1:n.1158A>C
NR_174380.1:n.1207A>C
NR_174381.1:n.1046A>C
NR_174382.1:n.1443A>C