Canonical Allele Identifier: CA339035812

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24175146A>G (hg19) ; chr1:g.23848656A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848656A>G , CM000663.2:g.23848656A>G	GRCh38
NC_000001.10:g.24175146A>G , CM000663.1:g.24175146A>G	GRCh37
NC_000001.9:g.24047733A>G	NCBI36
NG_013346.1:g.24714T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1153T>C MANE Select	ENSP00000363603.3:p.Ser385Pro
ENST00000374479.3:c.1153T>C	ENSP00000363603.3:p.Ser385Pro
NM_000147.4:c.1153T>C	NP_000138.2:p.Ser385Pro
XM_005245821.1:c.778T>C	XP_005245878.1:p.Ser260Pro
XM_011541167.1:c.520T>C	XP_011539469.1:p.Ser174Pro
XM_005245821.3:c.778T>C	XP_005245878.1:p.Ser260Pro
XM_011541167.3:c.520T>C	XP_011539469.1:p.Ser174Pro
XM_017000905.2:c.850T>C	XP_016856394.1:p.Ser284Pro
NM_000147.5:c.1153T>C MANE Select	NP_000138.2:p.Ser385Pro
NR_174379.1:n.1331T>C
NR_174380.1:n.1380T>C
NR_174381.1:n.1219T>C
NR_174382.1:n.1616T>C