Canonical Allele Identifier: CA339036519

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175238C>A (hg19) ; chr1:g.23848748C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848748C>A , CM000663.2:g.23848748C>A	GRCh38
NC_000001.10:g.24175238C>A , CM000663.1:g.24175238C>A	GRCh37
NC_000001.9:g.24047825C>A	NCBI36
NG_013346.1:g.24622G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1061G>T MANE Select	ENSP00000363603.3:p.Arg354Met
ENST00000374479.3:c.1061G>T	ENSP00000363603.3:p.Arg354Met
NM_000147.4:c.1061G>T	NP_000138.2:p.Arg354Met
XM_005245821.1:c.686G>T	XP_005245878.1:p.Arg229Met
XM_011541167.1:c.428G>T	XP_011539469.1:p.Arg143Met
XM_005245821.3:c.686G>T	XP_005245878.1:p.Arg229Met
XM_011541167.3:c.428G>T	XP_011539469.1:p.Arg143Met
XM_017000905.2:c.758G>T	XP_016856394.1:p.Arg253Met
NM_000147.5:c.1061G>T MANE Select	NP_000138.2:p.Arg354Met
NR_174379.1:n.1239G>T
NR_174380.1:n.1288G>T
NR_174381.1:n.1127G>T
NR_174382.1:n.1524G>T