Canonical Allele Identifier: CA339036412

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175221T>G (hg19) ; chr1:g.23848731T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848731T>G , CM000663.2:g.23848731T>G	GRCh38
NC_000001.10:g.24175221T>G , CM000663.1:g.24175221T>G	GRCh37
NC_000001.9:g.24047808T>G	NCBI36
NG_013346.1:g.24639A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1078A>C MANE Select	ENSP00000363603.3:p.Lys360Gln
ENST00000374479.3:c.1078A>C	ENSP00000363603.3:p.Lys360Gln
NM_000147.4:c.1078A>C	NP_000138.2:p.Lys360Gln
XM_005245821.1:c.703A>C	XP_005245878.1:p.Lys235Gln
XM_011541167.1:c.445A>C	XP_011539469.1:p.Lys149Gln
XM_005245821.3:c.703A>C	XP_005245878.1:p.Lys235Gln
XM_011541167.3:c.445A>C	XP_011539469.1:p.Lys149Gln
XM_017000905.2:c.775A>C	XP_016856394.1:p.Lys259Gln
NM_000147.5:c.1078A>C MANE Select	NP_000138.2:p.Lys360Gln
NR_174379.1:n.1256A>C
NR_174380.1:n.1305A>C
NR_174381.1:n.1144A>C
NR_174382.1:n.1541A>C