Canonical Allele Identifier: CA339034029

Gene: FUCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23845807C>G , CM000663.2:g.23845807C>G	GRCh38
NC_000001.10:g.24172297C>G , CM000663.1:g.24172297C>G	GRCh37
NC_000001.9:g.24044884C>G	NCBI36
NG_013346.1:g.27563G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000147.5:c.1309G>C MANE Select	NP_000138.2:p.Asp437His
ENST00000374479.4:c.1309G>C MANE Select	ENSP00000363603.3:p.Asp437His
NM_000147.4:c.1309G>C	NP_000138.2:p.Asp437His
NR_174379.1:n.1487G>C
NR_174380.1:n.1536G>C
NR_174381.1:n.1375G>C
NR_174382.1:n.1772G>C
ENST00000374479.3:c.1309G>C	ENSP00000363603.3:p.Asp437His
XM_005245821.1:c.934G>C	XP_005245878.1:p.Asp312His
XM_005245821.3:c.934G>C	XP_005245878.1:p.Asp312His
XM_011541167.1:c.676G>C	XP_011539469.1:p.Asp226His
XM_011541167.3:c.676G>C	XP_011539469.1:p.Asp226His
XM_017000905.2:c.1006G>C	XP_016856394.1:p.Asp336His