Canonical Allele Identifier: CA339010268

Gene: FUCA1

Linked Data

• dbSNP Id: rs1248013064
• gnomAD v2: 1-24194634-G-A
• gnomAD v4: 1-23868144-G-A
• MyVariant Identifiers: chr1:g.24194634G>A (hg19) ; chr1:g.23868144G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23868144G>A , CM000663.2:g.23868144G>A	GRCh38
NC_000001.10:g.24194634G>A , CM000663.1:g.24194634G>A	GRCh37
NC_000001.9:g.24067221G>A	NCBI36
NG_013346.1:g.5226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.143C>T MANE Select	ENSP00000363603.3:p.Pro48Leu
ENST00000374479.3:c.143C>T	ENSP00000363603.3:p.Pro48Leu
NM_000147.4:c.143C>T	NP_000138.2:p.Pro48Leu
XM_005245821.1:c.-407C>T	XP_005245878.1:n.-407C>T
XM_005245821.3:c.-407C>T	XP_005245878.1:n.-407C>T
NM_000147.5:c.143C>T MANE Select	NP_000138.2:p.Pro48Leu
NR_174379.1:n.147C>T
NR_174380.1:n.147C>T
NR_174381.1:n.147C>T
NR_174382.1:n.147C>T