Canonical Allele Identifier: CA364105244

Gene: GUCA1ANB-GUCA1A GUCA1A CIMIP3

Linked Data

• dbSNP Id: rs1767871163
• gnomAD v3: 6-42173664-G-C
• gnomAD v4: 6-42173664-G-C
• MyVariant Identifiers: chr6:g.42141402G>C (hg19) ; chr6:g.42173664G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42173664G>C , CM000668.2:g.42173664G>C	GRCh38
NC_000006.11:g.42141402G>C , CM000668.1:g.42141402G>C	GRCh37
NC_000006.10:g.42249380G>C	NCBI36
NG_009938.1:g.23259G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703265.1:c.*286G>C (GUCA1ANB-GUCA1A)	ENSP00000515250.1:n.*286G>C
ENST00000703266.1:c.*286G>C (GUCA1ANB-GUCA1A)	ENSP00000515251.1:n.*286G>C
ENST00000703267.1:c.*549G>C (GUCA1ANB-GUCA1A)	ENSP00000515252.1:n.*549G>C
ENST00000372958.2:c.51G>C (GUCA1A) MANE Select	ENSP00000362049.1:p.Glu17Asp
ENST00000394237.6:c.*549G>C (CIMIP3)	ENSP00000377784.2:n.*549G>C
ENST00000418175.6:c.*286G>C (CIMIP3)	ENSP00000388438.2:n.*286G>C
ENST00000654459.1:c.51G>C (GUCA1A)	ENSP00000499539.1:p.Glu17Asp
ENST00000659095.1:c.*286G>C (CIMIP3)	ENSP00000499714.1:n.*286G>C
ENST00000053469.8:c.51G>C (GUCA1A)	ENSP00000053469.4:p.Glu17Asp
ENST00000372958.1:c.51G>C (GUCA1A)	ENSP00000362049.1:p.Glu17Asp
ENST00000394237.5:c.51G>C (GUCA1A)	ENSP00000377784.1:p.Glu17Asp
ENST00000418175.5:c.51G>C (GUCA1A)	ENSP00000388438.1:p.Glu17Asp
ENST00000541991.5:c.39G>C (GUCA1A)	ENSP00000437476.2:p.Glu13Asp
NM_000409.3:c.51G>C (GUCA1A)	NP_000400.2:p.Glu17Asp
XM_011514536.1:c.51G>C (GUCA1A)	XP_011512838.1:p.Glu17Asp
XM_011514537.1:c.51G>C (GUCA1A)	XP_011512839.1:p.Glu17Asp
XM_011514538.1:c.51G>C (GUCA1A)	XP_011512840.1:p.Glu17Asp
XM_011514539.1:c.51G>C (GUCA1A)	XP_011512841.1:p.Glu17Asp
NM_000409.4:c.51G>C (GUCA1A)	NP_000400.2:p.Glu17Asp
NM_001319061.1:c.51G>C (GUCA1A)	NP_001305990.1:p.Glu17Asp
NM_001319062.1:c.51G>C (GUCA1A)	NP_001305991.1:p.Glu17Asp
XM_011514537.2:c.51G>C (GUCA1A)	XP_011512839.1:p.Glu17Asp
NM_000409.5:c.51G>C (GUCA1A)	NP_000400.2:p.Glu17Asp
NM_001319061.2:c.51G>C (GUCA1A)	NP_001305990.1:p.Glu17Asp
NM_001319062.2:c.51G>C (GUCA1A)	NP_001305991.1:p.Glu17Asp
NM_001384910.1:c.51G>C (GUCA1A) MANE Select	NP_001371839.1:p.Glu17Asp