Canonical Allele Identifier: CA339036130

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175188C>G (hg19) ; chr1:g.23848698C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848698C>G , CM000663.2:g.23848698C>G	GRCh38
NC_000001.10:g.24175188C>G , CM000663.1:g.24175188C>G	GRCh37
NC_000001.9:g.24047775C>G	NCBI36
NG_013346.1:g.24672G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1111G>C MANE Select	ENSP00000363603.3:p.Ala371Pro
ENST00000374479.3:c.1111G>C	ENSP00000363603.3:p.Ala371Pro
NM_000147.4:c.1111G>C	NP_000138.2:p.Ala371Pro
XM_005245821.1:c.736G>C	XP_005245878.1:p.Ala246Pro
XM_011541167.1:c.478G>C	XP_011539469.1:p.Ala160Pro
XM_005245821.3:c.736G>C	XP_005245878.1:p.Ala246Pro
XM_011541167.3:c.478G>C	XP_011539469.1:p.Ala160Pro
XM_017000905.2:c.808G>C	XP_016856394.1:p.Ala270Pro
NM_000147.5:c.1111G>C MANE Select	NP_000138.2:p.Ala371Pro
NR_174379.1:n.1289G>C
NR_174380.1:n.1338G>C
NR_174381.1:n.1177G>C
NR_174382.1:n.1574G>C