Canonical Allele Identifier: CA339036655

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23848784-G-A
• MyVariant Identifiers: chr1:g.24175274G>A (hg19) ; chr1:g.23848784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848784G>A , CM000663.2:g.23848784G>A	GRCh38
NC_000001.10:g.24175274G>A , CM000663.1:g.24175274G>A	GRCh37
NC_000001.9:g.24047861G>A	NCBI36
NG_013346.1:g.24586C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1025C>T MANE Select	ENSP00000363603.3:p.Thr342Ile
ENST00000374479.3:c.1025C>T	ENSP00000363603.3:p.Thr342Ile
NM_000147.4:c.1025C>T	NP_000138.2:p.Thr342Ile
XM_005245821.1:c.650C>T	XP_005245878.1:p.Thr217Ile
XM_011541167.1:c.392C>T	XP_011539469.1:p.Thr131Ile
XM_005245821.3:c.650C>T	XP_005245878.1:p.Thr217Ile
XM_011541167.3:c.392C>T	XP_011539469.1:p.Thr131Ile
XM_017000905.2:c.722C>T	XP_016856394.1:p.Thr241Ile
NM_000147.5:c.1025C>T MANE Select	NP_000138.2:p.Thr342Ile
NR_174379.1:n.1203C>T
NR_174380.1:n.1252C>T
NR_174381.1:n.1091C>T
NR_174382.1:n.1488C>T