Canonical Allele Identifier: CA416605305
Gene: FUCA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.24192025A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23865535A>G , CM000663.2:g.23865535A>G GRCh38
NC_000001.10:g.24192025A>G , CM000663.1:g.24192025A>G GRCh37
NC_000001.9:g.24064612A>G NCBI36
NG_013346.1:g.7835T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374479.4:c.480T>C MANE Select ENSP00000363603.3:p.Pro160=
ENST00000374479.3:c.480T>C ENSP00000363603.3:p.Pro160=
NM_000147.4:c.480T>C NP_000138.2:p.Pro160=
XM_005245821.1:c.105T>C XP_005245878.1:p.Pro35=
XM_011541167.1:c.-154T>C XP_011539469.1:n.-154T>C
XM_005245821.3:c.105T>C XP_005245878.1:p.Pro35=
XM_011541167.3:c.-154T>C XP_011539469.1:n.-154T>C
XM_017000905.2:c.177T>C XP_016856394.1:p.Pro59=
NM_000147.5:c.480T>C MANE Select NP_000138.2:p.Pro160=
NR_174379.1:n.658T>C
NR_174380.1:n.707T>C
NR_174381.1:n.546T>C
NR_174382.1:n.943T>C