Canonical Allele Identifier: CA2644085266

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23865729-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865729C>A , CM000663.2:g.23865729C>A	GRCh38
NC_000001.10:g.24192219C>A , CM000663.1:g.24192219C>A	GRCh37
NC_000001.9:g.24064806C>A	NCBI36
NG_013346.1:g.7641G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.390-104G>T MANE Select	ENSP00000363603.3:n.390-104G>T
ENST00000374479.3:c.390-104G>T	ENSP00000363603.3:n.390-104G>T
NM_000147.4:c.390-104G>T	NP_000138.2:n.390-104G>T
XM_005245821.1:c.15-104G>T	XP_005245878.1:n.15-104G>T
XM_011541167.1:c.-244-104G>T	XP_011539469.1:n.-244-104G>T
XM_005245821.3:c.15-104G>T	XP_005245878.1:n.15-104G>T
XM_011541167.3:c.-244-104G>T	XP_011539469.1:n.-244-104G>T
XM_017000905.2:c.87-104G>T	XP_016856394.1:n.87-104G>T
NM_000147.5:c.390-104G>T MANE Select	NP_000138.2:n.390-104G>T
NR_174379.1:n.568-104G>T
NR_174380.1:n.617-104G>T
NR_174381.1:n.456-104G>T
NR_174382.1:n.853-104G>T