Canonical Allele Identifier: CA3805244
Gene: GUCA1ANB-GUCA1A HGNC NCBI
GUCA1A HGNC NCBI
CIMIP3 HGNC NCBI

Linked Data

dbSNP Id: rs755760825
gnomAD v2: 6-42141370-G-A
gnomAD v4: 6-42173632-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42173632G>A , CM000668.2:g.42173632G>A GRCh38
NC_000006.11:g.42141370G>A , CM000668.1:g.42141370G>A GRCh37
NC_000006.10:g.42249348G>A NCBI36
NG_009938.1:g.23227G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703265.1:c.*254G>A (GUCA1ANB-GUCA1A) ENSP00000515250.1:n.*254G>A
ENST00000703266.1:c.*254G>A (GUCA1ANB-GUCA1A) ENSP00000515251.1:n.*254G>A
ENST00000703267.1:c.*517G>A (GUCA1ANB-GUCA1A) ENSP00000515252.1:n.*517G>A
ENST00000372958.2:c.19G>A (GUCA1A) MANE Select ENSP00000362049.1:p.Gly7Arg
ENST00000394237.6:c.*517G>A (CIMIP3) ENSP00000377784.2:n.*517G>A
ENST00000418175.6:c.*254G>A (CIMIP3) ENSP00000388438.2:n.*254G>A
ENST00000654459.1:c.19G>A (GUCA1A) ENSP00000499539.1:p.Gly7Arg
ENST00000659095.1:c.*254G>A (CIMIP3) ENSP00000499714.1:n.*254G>A
ENST00000053469.8:c.19G>A (GUCA1A) ENSP00000053469.4:p.Gly7Arg
ENST00000372958.1:c.19G>A (GUCA1A) ENSP00000362049.1:p.Gly7Arg
ENST00000394237.5:c.19G>A (GUCA1A) ENSP00000377784.1:p.Gly7Arg
ENST00000418175.5:c.19G>A (GUCA1A) ENSP00000388438.1:p.Gly7Arg
ENST00000541991.5:c.7G>A (GUCA1A) ENSP00000437476.2:p.Gly3Arg
NM_000409.3:c.19G>A (GUCA1A) NP_000400.2:p.Gly7Arg
XM_011514536.1:c.19G>A (GUCA1A) XP_011512838.1:p.Gly7Arg
XM_011514537.1:c.19G>A (GUCA1A) XP_011512839.1:p.Gly7Arg
XM_011514538.1:c.19G>A (GUCA1A) XP_011512840.1:p.Gly7Arg
XM_011514539.1:c.19G>A (GUCA1A) XP_011512841.1:p.Gly7Arg
NM_000409.4:c.19G>A (GUCA1A) NP_000400.2:p.Gly7Arg
NM_001319061.1:c.19G>A (GUCA1A) NP_001305990.1:p.Gly7Arg
NM_001319062.1:c.19G>A (GUCA1A) NP_001305991.1:p.Gly7Arg
XM_011514537.2:c.19G>A (GUCA1A) XP_011512839.1:p.Gly7Arg
NM_000409.5:c.19G>A (GUCA1A) NP_000400.2:p.Gly7Arg
NM_001319061.2:c.19G>A (GUCA1A) NP_001305990.1:p.Gly7Arg
NM_001319062.2:c.19G>A (GUCA1A) NP_001305991.1:p.Gly7Arg
NM_001384910.1:c.19G>A (GUCA1A) MANE Select NP_001371839.1:p.Gly7Arg