Canonical Allele Identifier: CA339007327

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24191993G>C (hg19) ; chr1:g.23865503G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865503G>C , CM000663.2:g.23865503G>C	GRCh38
NC_000001.10:g.24191993G>C , CM000663.1:g.24191993G>C	GRCh37
NC_000001.9:g.24064580G>C	NCBI36
NG_013346.1:g.7867C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.512C>G MANE Select	ENSP00000363603.3:p.Ala171Gly
ENST00000374479.3:c.512C>G	ENSP00000363603.3:p.Ala171Gly
NM_000147.4:c.512C>G	NP_000138.2:p.Ala171Gly
XM_005245821.1:c.137C>G	XP_005245878.1:p.Ala46Gly
XM_011541167.1:c.-122C>G	XP_011539469.1:n.-122C>G
XM_005245821.3:c.137C>G	XP_005245878.1:p.Ala46Gly
XM_011541167.3:c.-122C>G	XP_011539469.1:n.-122C>G
XM_017000905.2:c.209C>G	XP_016856394.1:p.Ala70Gly
NM_000147.5:c.512C>G MANE Select	NP_000138.2:p.Ala171Gly
NR_174379.1:n.690C>G
NR_174380.1:n.739C>G
NR_174381.1:n.578C>G
NR_174382.1:n.975C>G