Canonical Allele Identifier: CA339007740

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24192096T>G (hg19) ; chr1:g.23865606T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865606T>G , CM000663.2:g.23865606T>G	GRCh38
NC_000001.10:g.24192096T>G , CM000663.1:g.24192096T>G	GRCh37
NC_000001.9:g.24064683T>G	NCBI36
NG_013346.1:g.7764A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.409A>C MANE Select	ENSP00000363603.3:p.Lys137Gln
ENST00000374479.3:c.409A>C	ENSP00000363603.3:p.Lys137Gln
NM_000147.4:c.409A>C	NP_000138.2:p.Lys137Gln
XM_005245821.1:c.34A>C	XP_005245878.1:p.Lys12Gln
XM_011541167.1:c.-225A>C	XP_011539469.1:n.-225A>C
XM_005245821.3:c.34A>C	XP_005245878.1:p.Lys12Gln
XM_011541167.3:c.-225A>C	XP_011539469.1:n.-225A>C
XM_017000905.2:c.106A>C	XP_016856394.1:p.Lys36Gln
NM_000147.5:c.409A>C MANE Select	NP_000138.2:p.Lys137Gln
NR_174379.1:n.587A>C
NR_174380.1:n.636A>C
NR_174381.1:n.475A>C
NR_174382.1:n.872A>C