Canonical Allele Identifier: CA339036677

Gene: FUCA1

Linked Data

• dbSNP Id: rs1371500395
• gnomAD v2: 1-24175284-T-C
• gnomAD v3: 1-23848794-T-C
• gnomAD v4: 1-23848794-T-C
• MyVariant Identifiers: chr1:g.24175284T>C (hg19) ; chr1:g.23848794T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848794T>C , CM000663.2:g.23848794T>C	GRCh38
NC_000001.10:g.24175284T>C , CM000663.1:g.24175284T>C	GRCh37
NC_000001.9:g.24047871T>C	NCBI36
NG_013346.1:g.24576A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.1015A>G MANE Select	ENSP00000363603.3:p.Ile339Val
ENST00000374479.3:c.1015A>G	ENSP00000363603.3:p.Ile339Val
NM_000147.4:c.1015A>G	NP_000138.2:p.Ile339Val
XM_005245821.1:c.640A>G	XP_005245878.1:p.Ile214Val
XM_011541167.1:c.382A>G	XP_011539469.1:p.Ile128Val
XM_005245821.3:c.640A>G	XP_005245878.1:p.Ile214Val
XM_011541167.3:c.382A>G	XP_011539469.1:p.Ile128Val
XM_017000905.2:c.712A>G	XP_016856394.1:p.Ile238Val
NM_000147.5:c.1015A>G MANE Select	NP_000138.2:p.Ile339Val
NR_174379.1:n.1193A>G
NR_174380.1:n.1242A>G
NR_174381.1:n.1081A>G
NR_174382.1:n.1478A>G