Canonical Allele Identifier: CA3805325
Community Standard Title: NM_001384910.1(GUCA1A):c.227A>G (p.Tyr76Cys)
Gene: GUCA1ANB-GUCA1A HGNC NCBI
GUCA1A HGNC NCBI
CIMIP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42178305A>G , CM000668.2:g.42178305A>G GRCh38
NC_000006.11:g.42146043A>G , CM000668.1:g.42146043A>G GRCh37
NC_000006.10:g.42254021A>G NCBI36
NG_009938.1:g.27900A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001384910.1:c.227A>G (GUCA1A) MANE Select NP_001371839.1:p.Tyr76Cys
ENST00000372958.2:c.227A>G (GUCA1A) MANE Select ENSP00000362049.1:p.Tyr76Cys
NM_000409.3:c.227A>G (GUCA1A) NP_000400.2:p.Tyr76Cys
NM_000409.4:c.227A>G (GUCA1A) NP_000400.2:p.Tyr76Cys
NM_000409.5:c.227A>G (GUCA1A) NP_000400.2:p.Tyr76Cys
NM_001319061.1:c.227A>G (GUCA1A) NP_001305990.1:p.Tyr76Cys
NM_001319061.2:c.227A>G (GUCA1A) NP_001305990.1:p.Tyr76Cys
NM_001319062.1:c.227A>G (GUCA1A) NP_001305991.1:p.Tyr76Cys
NM_001319062.2:c.227A>G (GUCA1A) NP_001305991.1:p.Tyr76Cys
ENST00000053469.8:c.227A>G (GUCA1A) ENSP00000053469.4:p.Tyr76Cys
ENST00000372958.1:c.227A>G (GUCA1A) ENSP00000362049.1:p.Tyr76Cys
ENST00000394237.5:c.227A>G (GUCA1A) ENSP00000377784.1:p.Tyr76Cys
ENST00000394237.6:c.*725A>G (CIMIP3) ENSP00000377784.2:n.*725A>G
ENST00000418175.5:c.227A>G (GUCA1A) ENSP00000388438.1:p.Tyr76Cys
ENST00000418175.6:c.*462A>G (CIMIP3) ENSP00000388438.2:n.*462A>G
ENST00000541991.5:c.215A>G (GUCA1A) ENSP00000437476.2:p.Tyr72Cys
ENST00000654459.1:c.227A>G (GUCA1A) ENSP00000499539.1:p.Tyr76Cys
ENST00000659095.1:c.*462A>G (CIMIP3) ENSP00000499714.1:n.*462A>G
ENST00000679182.1:c.8A>G (GUCA1A) ENSP00000504837.1:p.Tyr3Cys
ENST00000703265.1:c.*462A>G (GUCA1ANB-GUCA1A) ENSP00000515250.1:n.*462A>G
ENST00000703266.1:c.*462A>G (GUCA1ANB-GUCA1A) ENSP00000515251.1:n.*462A>G
ENST00000703267.1:c.*725A>G (GUCA1ANB-GUCA1A) ENSP00000515252.1:n.*725A>G
XM_006715073.2:c.8A>G (GUCA1A) XP_006715136.1:p.Tyr3Cys
XM_006715073.3:c.8A>G (GUCA1A) XP_006715136.1:p.Tyr3Cys
XM_011514536.1:c.227A>G (GUCA1A) XP_011512838.1:p.Tyr76Cys
XM_011514537.1:c.227A>G (GUCA1A) XP_011512839.1:p.Tyr76Cys
XM_011514537.2:c.227A>G (GUCA1A) XP_011512839.1:p.Tyr76Cys
XM_011514538.1:c.227A>G (GUCA1A) XP_011512840.1:p.Tyr76Cys
XM_011514539.1:c.227A>G (GUCA1A) XP_011512841.1:p.Tyr76Cys