Canonical Allele Identifier: CA339036147

Gene: FUCA1

Linked Data

• dbSNP Id: rs1557506020
• gnomAD v4: 1-23848700-T-C
• MyVariant Identifiers: chr1:g.24175190T>C (hg19) ; chr1:g.23848700T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23848700T>C , CM000663.2:g.23848700T>C	GRCh38
NC_000001.10:g.24175190T>C , CM000663.1:g.24175190T>C	GRCh37
NC_000001.9:g.24047777T>C	NCBI36
NG_013346.1:g.24670A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374479.4:c.1109A>G MANE Select	ENSP00000363603.3:p.Tyr370Cys
ENST00000374479.3:c.1109A>G	ENSP00000363603.3:p.Tyr370Cys
NM_000147.4:c.1109A>G	NP_000138.2:p.Tyr370Cys
XM_005245821.1:c.734A>G	XP_005245878.1:p.Tyr245Cys
XM_011541167.1:c.476A>G	XP_011539469.1:p.Tyr159Cys
XM_005245821.3:c.734A>G	XP_005245878.1:p.Tyr245Cys
XM_011541167.3:c.476A>G	XP_011539469.1:p.Tyr159Cys
XM_017000905.2:c.806A>G	XP_016856394.1:p.Tyr269Cys
NM_000147.5:c.1109A>G MANE Select	NP_000138.2:p.Tyr370Cys
NR_174379.1:n.1287A>G
NR_174380.1:n.1336A>G
NR_174381.1:n.1175A>G
NR_174382.1:n.1572A>G