Canonical Allele Identifier: CA339036625

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175258A>C (hg19) ; chr1:g.23848768A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848768A>C , CM000663.2:g.23848768A>C	GRCh38
NC_000001.10:g.24175258A>C , CM000663.1:g.24175258A>C	GRCh37
NC_000001.9:g.24047845A>C	NCBI36
NG_013346.1:g.24602T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1041T>G MANE Select	ENSP00000363603.3:p.Ile347Met
ENST00000374479.3:c.1041T>G	ENSP00000363603.3:p.Ile347Met
NM_000147.4:c.1041T>G	NP_000138.2:p.Ile347Met
XM_005245821.1:c.666T>G	XP_005245878.1:p.Ile222Met
XM_011541167.1:c.408T>G	XP_011539469.1:p.Ile136Met
XM_005245821.3:c.666T>G	XP_005245878.1:p.Ile222Met
XM_011541167.3:c.408T>G	XP_011539469.1:p.Ile136Met
XM_017000905.2:c.738T>G	XP_016856394.1:p.Ile246Met
NM_000147.5:c.1041T>G MANE Select	NP_000138.2:p.Ile347Met
NR_174379.1:n.1219T>G
NR_174380.1:n.1268T>G
NR_174381.1:n.1107T>G
NR_174382.1:n.1504T>G