Canonical Allele Identifier: CA339007264

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24191979A>C (hg19) ; chr1:g.23865489A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865489A>C , CM000663.2:g.23865489A>C	GRCh38
NC_000001.10:g.24191979A>C , CM000663.1:g.24191979A>C	GRCh37
NC_000001.9:g.24064566A>C	NCBI36
NG_013346.1:g.7881T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.524+2T>G MANE Select	ENSP00000363603.3:n.524+2T>G
ENST00000374479.3:c.524+2T>G	ENSP00000363603.3:n.524+2T>G
NM_000147.4:c.524+2T>G	NP_000138.2:n.524+2T>G
XM_005245821.1:c.149+2T>G	XP_005245878.1:n.149+2T>G
XM_011541167.1:c.-110+2T>G	XP_011539469.1:n.-110+2T>G
XM_005245821.3:c.149+2T>G	XP_005245878.1:n.149+2T>G
XM_011541167.3:c.-110+2T>G	XP_011539469.1:n.-110+2T>G
XM_017000905.2:c.221+2T>G	XP_016856394.1:n.221+2T>G
NM_000147.5:c.524+2T>G MANE Select	NP_000138.2:n.524+2T>G
NR_174379.1:n.702+2T>G
NR_174380.1:n.751+2T>G
NR_174381.1:n.590+2T>G
NR_174382.1:n.987+2T>G