Canonical Allele Identifier: CA339007285

Gene: FUCA1

Linked Data

• gnomAD v4: 1-23865494-T-G
• MyVariant Identifiers: chr1:g.24191984T>G (hg19) ; chr1:g.23865494T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23865494T>G , CM000663.2:g.23865494T>G	GRCh38
NC_000001.10:g.24191984T>G , CM000663.1:g.24191984T>G	GRCh37
NC_000001.9:g.24064571T>G	NCBI36
NG_013346.1:g.7876A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.521A>C MANE Select	ENSP00000363603.3:p.Lys174Thr
ENST00000374479.3:c.521A>C	ENSP00000363603.3:p.Lys174Thr
NM_000147.4:c.521A>C	NP_000138.2:p.Lys174Thr
XM_005245821.1:c.146A>C	XP_005245878.1:p.Lys49Thr
XM_011541167.1:c.-113A>C	XP_011539469.1:n.-113A>C
XM_005245821.3:c.146A>C	XP_005245878.1:p.Lys49Thr
XM_011541167.3:c.-113A>C	XP_011539469.1:n.-113A>C
XM_017000905.2:c.218A>C	XP_016856394.1:p.Lys73Thr
NM_000147.5:c.521A>C MANE Select	NP_000138.2:p.Lys174Thr
NR_174379.1:n.699A>C
NR_174380.1:n.748A>C
NR_174381.1:n.587A>C
NR_174382.1:n.984A>C