Canonical Allele Identifier: CA138134351

Gene: GUCA1ANB-GUCA1A CIMIP3 GUCA1A

Linked Data

• dbSNP Id: rs993523656
• MyVariant Identifiers: chr6:g.42139832T>G (hg19) ; chr6:g.42172094T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42172094T>G , CM000668.2:g.42172094T>G	GRCh38
NC_000006.11:g.42139832T>G , CM000668.1:g.42139832T>G	GRCh37
NC_000006.10:g.42247810T>G	NCBI36
NG_009938.1:g.21689T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703265.1:c.186-1239T>G (GUCA1ANB-GUCA1A)	ENSP00000515250.1:n.186-1239T>G
ENST00000703266.1:c.231-1239T>G (GUCA1ANB-GUCA1A)	ENSP00000515251.1:n.231-1239T>G
ENST00000703267.1:c.*218-1239T>G (GUCA1ANB-GUCA1A)	ENSP00000515252.1:n.*218-1239T>G
ENST00000394237.6:c.*218-1239T>G (CIMIP3)	ENSP00000377784.2:n.*218-1239T>G
ENST00000418175.6:c.186-1239T>G (CIMIP3)	ENSP00000388438.2:n.186-1239T>G
ENST00000654459.1:c.-281-1239T>G (GUCA1A)	ENSP00000499539.1:n.-281-1239T>G
ENST00000659095.1:c.231-1239T>G (CIMIP3)	ENSP00000499714.1:n.231-1239T>G
ENST00000053469.8:c.-281-1239T>G (GUCA1A)	ENSP00000053469.4:n.-281-1239T>G
ENST00000394237.5:c.-281-1239T>G (GUCA1A)	ENSP00000377784.1:n.-281-1239T>G
ENST00000418175.5:c.-281-1239T>G (GUCA1A)	ENSP00000388438.1:n.-281-1239T>G
ENST00000541991.5:c.-293-1239T>G (GUCA1A)	ENSP00000437476.2:n.-293-1239T>G
NM_000409.3:c.-281-1239T>G (GUCA1A)	NP_000400.2:n.-281-1239T>G
XM_011514536.1:c.-281-1239T>G (GUCA1A)	XP_011512838.1:n.-281-1239T>G
XM_011514537.1:c.-281-1239T>G (GUCA1A)	XP_011512839.1:n.-281-1239T>G
XM_011514538.1:c.-281-1239T>G (GUCA1A)	XP_011512840.1:n.-281-1239T>G
XM_011514539.1:c.-281-1239T>G (GUCA1A)	XP_011512841.1:n.-281-1239T>G
NM_000409.4:c.-281-1239T>G (GUCA1A)	NP_000400.2:n.-281-1239T>G
NM_001319061.1:c.-281-1239T>G (GUCA1A)	NP_001305990.1:n.-281-1239T>G
NM_001319062.1:c.-281-1239T>G (GUCA1A)	NP_001305991.1:n.-281-1239T>G
XM_011514537.2:c.-281-1239T>G (GUCA1A)	XP_011512839.1:n.-281-1239T>G
NM_000409.5:c.-281-1239T>G (GUCA1A)	NP_000400.2:n.-281-1239T>G
NM_001319061.2:c.-281-1239T>G (GUCA1A)	NP_001305990.1:n.-281-1239T>G
NM_001319062.2:c.-281-1239T>G (GUCA1A)	NP_001305991.1:n.-281-1239T>G