Canonical Allele Identifier: CA339007293

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24191985T>G (hg19) ; chr1:g.23865495T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865495T>G , CM000663.2:g.23865495T>G	GRCh38
NC_000001.10:g.24191985T>G , CM000663.1:g.24191985T>G	GRCh37
NC_000001.9:g.24064572T>G	NCBI36
NG_013346.1:g.7875A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.520A>C MANE Select	ENSP00000363603.3:p.Lys174Gln
ENST00000374479.3:c.520A>C	ENSP00000363603.3:p.Lys174Gln
NM_000147.4:c.520A>C	NP_000138.2:p.Lys174Gln
XM_005245821.1:c.145A>C	XP_005245878.1:p.Lys49Gln
XM_011541167.1:c.-114A>C	XP_011539469.1:n.-114A>C
XM_005245821.3:c.145A>C	XP_005245878.1:p.Lys49Gln
XM_011541167.3:c.-114A>C	XP_011539469.1:n.-114A>C
XM_017000905.2:c.217A>C	XP_016856394.1:p.Lys73Gln
NM_000147.5:c.520A>C MANE Select	NP_000138.2:p.Lys174Gln
NR_174379.1:n.698A>C
NR_174380.1:n.747A>C
NR_174381.1:n.586A>C
NR_174382.1:n.983A>C