Canonical Allele Identifier: CA2644085214

Gene: FUCA1

Linked Data

• dbSNP Id: rs2148449069
• gnomAD v4: 1-23865481-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865481G>A , CM000663.2:g.23865481G>A	GRCh38
NC_000001.10:g.24191971G>A , CM000663.1:g.24191971G>A	GRCh37
NC_000001.9:g.24064558G>A	NCBI36
NG_013346.1:g.7889C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.524+10C>T MANE Select	ENSP00000363603.3:n.524+10C>T
ENST00000374479.3:c.524+10C>T	ENSP00000363603.3:n.524+10C>T
NM_000147.4:c.524+10C>T	NP_000138.2:n.524+10C>T
XM_005245821.1:c.149+10C>T	XP_005245878.1:n.149+10C>T
XM_011541167.1:c.-110+10C>T	XP_011539469.1:n.-110+10C>T
XM_005245821.3:c.149+10C>T	XP_005245878.1:n.149+10C>T
XM_011541167.3:c.-110+10C>T	XP_011539469.1:n.-110+10C>T
XM_017000905.2:c.221+10C>T	XP_016856394.1:n.221+10C>T
NM_000147.5:c.524+10C>T MANE Select	NP_000138.2:n.524+10C>T
NR_174379.1:n.702+10C>T
NR_174380.1:n.751+10C>T
NR_174381.1:n.590+10C>T
NR_174382.1:n.987+10C>T