Canonical Allele Identifier: CA3805567

Gene: GUCA1B

Linked Data

• ClinVar Variation Id: 356735
• ClinVar RCV Id: RCV000314388 ; RCV002520416
• dbSNP Id: rs527241870
• ExAC: 6:42153506 C / T
• gnomAD v2: 6-42153506-C-T
• gnomAD v3: 6-42185768-C-T
• gnomAD v4: 6-42185768-C-T
• MyVariant Identifiers: chr6:g.42153506C>T (hg19) ; chr6:g.42185768C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42185768C>T , CM000668.2:g.42185768C>T	GRCh38
NC_000006.11:g.42153506C>T , CM000668.1:g.42153506C>T	GRCh37
NC_000006.10:g.42261484C>T	NCBI36
NG_016216.1:g.14189G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230361.4:c.387G>A MANE Select	ENSP00000230361.3:p.Arg129=
ENST00000230361.3:c.387G>A	ENSP00000230361.3:p.Arg129=
NM_002098.5:c.387G>A	NP_002089.4:p.Arg129=
XM_011514540.1:c.183G>A	XP_011512842.1:p.Arg61=
NM_002098.6:c.387G>A MANE Select	NP_002089.4:p.Arg129=