Canonical Allele Identifier: CA232839

Gene: GUCA1B

Linked Data

• ClinVar Variation Id: 7369
• ClinVar RCV Id: RCV000007794 ; RCV000132648 ; RCV000343566 ; RCV003887857
• dbSNP Id: rs121909124
• ExAC: 6:42153424 C / T
• gnomAD v2: 6-42153424-C-T
• gnomAD v3: 6-42185686-C-T
• gnomAD v4: 6-42185686-C-T
• MyVariant Identifiers: chr6:g.42153424C>T (hg19) ; chr6:g.42185686C>T (hg38)
• PubMed: PMID:15452722 ; PMID:26161267

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42185686C>T , CM000668.2:g.42185686C>T	GRCh38
NC_000006.11:g.42153424C>T , CM000668.1:g.42153424C>T	GRCh37
NC_000006.10:g.42261402C>T	NCBI36
NG_016216.1:g.14271G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230361.4:c.469G>A MANE Select	ENSP00000230361.3:p.Gly157Arg
ENST00000230361.3:c.469G>A	ENSP00000230361.3:p.Gly157Arg
NM_002098.5:c.469G>A	NP_002089.4:p.Gly157Arg
XM_011514540.1:c.265G>A	XP_011512842.1:p.Gly89Arg
NM_002098.6:c.469G>A MANE Select	NP_002089.4:p.Gly157Arg