Canonical Allele Identifier: CA339007329

Gene: FUCA1

Linked Data

• MyVariant Identifiers: chr1:g.24191994C>A (hg19) ; chr1:g.23865504C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865504C>A , CM000663.2:g.23865504C>A	GRCh38
NC_000001.10:g.24191994C>A , CM000663.1:g.24191994C>A	GRCh37
NC_000001.9:g.24064581C>A	NCBI36
NG_013346.1:g.7866G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374479.4:c.511G>T MANE Select	ENSP00000363603.3:p.Ala171Ser
ENST00000374479.3:c.511G>T	ENSP00000363603.3:p.Ala171Ser
NM_000147.4:c.511G>T	NP_000138.2:p.Ala171Ser
XM_005245821.1:c.136G>T	XP_005245878.1:p.Ala46Ser
XM_011541167.1:c.-123G>T	XP_011539469.1:n.-123G>T
XM_005245821.3:c.136G>T	XP_005245878.1:p.Ala46Ser
XM_011541167.3:c.-123G>T	XP_011539469.1:n.-123G>T
XM_017000905.2:c.208G>T	XP_016856394.1:p.Ala70Ser
NM_000147.5:c.511G>T MANE Select	NP_000138.2:p.Ala171Ser
NR_174379.1:n.689G>T
NR_174380.1:n.738G>T
NR_174381.1:n.577G>T
NR_174382.1:n.974G>T