Canonical Allele Identifier: CA19282003

Gene: FUCA1

Linked Data

• dbSNP Id: rs940881681
• gnomAD v3: 1-23865903-A-G
• gnomAD v4: 1-23865903-A-G
• MyVariant Identifiers: chr1:g.24192393A>G (hg19) ; chr1:g.23865903A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865903A>G , CM000663.2:g.23865903A>G	GRCh38
NC_000001.10:g.24192393A>G , CM000663.1:g.24192393A>G	GRCh37
NC_000001.9:g.24064980A>G	NCBI36
NG_013346.1:g.7467T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.390-278T>C MANE Select	ENSP00000363603.3:n.390-278T>C
ENST00000374479.3:c.390-278T>C	ENSP00000363603.3:n.390-278T>C
NM_000147.4:c.390-278T>C	NP_000138.2:n.390-278T>C
XM_005245821.1:c.15-278T>C	XP_005245878.1:n.15-278T>C
XM_011541167.1:c.-245+7T>C	XP_011539469.1:n.-245+7T>C
XM_005245821.3:c.15-278T>C	XP_005245878.1:n.15-278T>C
XM_011541167.3:c.-245+7T>C	XP_011539469.1:n.-245+7T>C
XM_017000905.2:c.87-278T>C	XP_016856394.1:n.87-278T>C
NM_000147.5:c.390-278T>C MANE Select	NP_000138.2:n.390-278T>C
NR_174379.1:n.568-278T>C
NR_174380.1:n.617-278T>C
NR_174381.1:n.455+7T>C
NR_174382.1:n.852+7T>C