Canonical Allele Identifier: CA416605438

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192091A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865601A>G , CM000663.2:g.23865601A>G	GRCh38
NC_000001.10:g.24192091A>G , CM000663.1:g.24192091A>G	GRCh37
NC_000001.9:g.24064678A>G	NCBI36
NG_013346.1:g.7769T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.414T>C MANE Select	ENSP00000363603.3:p.His138=
ENST00000374479.3:c.414T>C	ENSP00000363603.3:p.His138=
NM_000147.4:c.414T>C	NP_000138.2:p.His138=
XM_005245821.1:c.39T>C	XP_005245878.1:p.His13=
XM_011541167.1:c.-220T>C	XP_011539469.1:n.-220T>C
XM_005245821.3:c.39T>C	XP_005245878.1:p.His13=
XM_011541167.3:c.-220T>C	XP_011539469.1:n.-220T>C
XM_017000905.2:c.111T>C	XP_016856394.1:p.His37=
NM_000147.5:c.414T>C MANE Select	NP_000138.2:p.His138=
NR_174379.1:n.592T>C
NR_174380.1:n.641T>C
NR_174381.1:n.480T>C
NR_174382.1:n.877T>C