Canonical Allele Identifier: CA339007489

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192036C>G (hg19) ; chr1:g.23865546C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865546C>G , CM000663.2:g.23865546C>G	GRCh38
NC_000001.10:g.24192036C>G , CM000663.1:g.24192036C>G	GRCh37
NC_000001.9:g.24064623C>G	NCBI36
NG_013346.1:g.7824G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.469G>C MANE Select	ENSP00000363603.3:p.Asp157His
ENST00000374479.3:c.469G>C	ENSP00000363603.3:p.Asp157His
NM_000147.4:c.469G>C	NP_000138.2:p.Asp157His
XM_005245821.1:c.94G>C	XP_005245878.1:p.Asp32His
XM_011541167.1:c.-165G>C	XP_011539469.1:n.-165G>C
XM_005245821.3:c.94G>C	XP_005245878.1:p.Asp32His
XM_011541167.3:c.-165G>C	XP_011539469.1:n.-165G>C
XM_017000905.2:c.166G>C	XP_016856394.1:p.Asp56His
NM_000147.5:c.469G>C MANE Select	NP_000138.2:p.Asp157His
NR_174379.1:n.647G>C
NR_174380.1:n.696G>C
NR_174381.1:n.535G>C
NR_174382.1:n.932G>C