Canonical Allele Identifier: CA2678750597

Gene: GUCA1ANB-GUCA1A GUCA1A CIMIP3

Linked Data

• gnomAD v4: 6-42173583-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42173583C>A , CM000668.2:g.42173583C>A	GRCh38
NC_000006.11:g.42141321C>A , CM000668.1:g.42141321C>A	GRCh37
NC_000006.10:g.42249299C>A	NCBI36
NG_009938.1:g.23178C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703265.1:c.*205C>A (GUCA1ANB-GUCA1A)	ENSP00000515250.1:n.*205C>A
ENST00000703266.1:c.*205C>A (GUCA1ANB-GUCA1A)	ENSP00000515251.1:n.*205C>A
ENST00000703267.1:c.*468C>A (GUCA1ANB-GUCA1A)	ENSP00000515252.1:n.*468C>A
ENST00000372958.2:c.-31C>A (GUCA1A) MANE Select	ENSP00000362049.1:n.-31C>A
ENST00000394237.6:c.*468C>A (CIMIP3)	ENSP00000377784.2:n.*468C>A
ENST00000418175.6:c.*205C>A (CIMIP3)	ENSP00000388438.2:n.*205C>A
ENST00000654459.1:c.-31C>A (GUCA1A)	ENSP00000499539.1:n.-31C>A
ENST00000659095.1:c.*205C>A (CIMIP3)	ENSP00000499714.1:n.*205C>A
ENST00000053469.8:c.-31C>A (GUCA1A)	ENSP00000053469.4:n.-31C>A
ENST00000372958.1:c.-31C>A (GUCA1A)	ENSP00000362049.1:n.-31C>A
ENST00000394237.5:c.-31C>A (GUCA1A)	ENSP00000377784.1:n.-31C>A
ENST00000418175.5:c.-31C>A (GUCA1A)	ENSP00000388438.1:n.-31C>A
ENST00000541991.5:c.-43C>A (GUCA1A)	ENSP00000437476.2:n.-43C>A
NM_000409.3:c.-31C>A (GUCA1A)	NP_000400.2:n.-31C>A
XM_011514536.1:c.-31C>A (GUCA1A)	XP_011512838.1:n.-31C>A
XM_011514537.1:c.-31C>A (GUCA1A)	XP_011512839.1:n.-31C>A
XM_011514538.1:c.-31C>A (GUCA1A)	XP_011512840.1:n.-31C>A
XM_011514539.1:c.-31C>A (GUCA1A)	XP_011512841.1:n.-31C>A
NM_000409.4:c.-31C>A (GUCA1A)	NP_000400.2:n.-31C>A
NM_001319061.1:c.-31C>A (GUCA1A)	NP_001305990.1:n.-31C>A
NM_001319062.1:c.-31C>A (GUCA1A)	NP_001305991.1:n.-31C>A
XM_011514537.2:c.-31C>A (GUCA1A)	XP_011512839.1:n.-31C>A
NM_000409.5:c.-31C>A (GUCA1A)	NP_000400.2:n.-31C>A
NM_001319061.2:c.-31C>A (GUCA1A)	NP_001305990.1:n.-31C>A
NM_001319062.2:c.-31C>A (GUCA1A)	NP_001305991.1:n.-31C>A
NM_001384910.1:c.-31C>A (GUCA1A) MANE Select	NP_001371839.1:n.-31C>A