Canonical Allele Identifier: CA3805275

Gene: GUCA1ANB-GUCA1A GUCA1A CIMIP3

Linked Data

• ClinVar Variation Id: 839598
• ClinVar RCV Id: RCV001041391
• dbSNP Id: rs141895770
• ExAC: 6:42141505 G / A
• gnomAD v2: 6-42141505-G-A
• gnomAD v3: 6-42173767-G-A
• gnomAD v4: 6-42173767-G-A
• MyVariant Identifiers: chr6:g.42141505G>A (hg19) ; chr6:g.42173767G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42173767G>A , CM000668.2:g.42173767G>A	GRCh38
NC_000006.11:g.42141505G>A , CM000668.1:g.42141505G>A	GRCh37
NC_000006.10:g.42249483G>A	NCBI36
NG_009938.1:g.23362G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703265.1:c.*389G>A (GUCA1ANB-GUCA1A)	ENSP00000515250.1:n.*389G>A
ENST00000703266.1:c.*389G>A (GUCA1ANB-GUCA1A)	ENSP00000515251.1:n.*389G>A
ENST00000703267.1:c.*652G>A (GUCA1ANB-GUCA1A)	ENSP00000515252.1:n.*652G>A
ENST00000372958.2:c.154G>A (GUCA1A) MANE Select	ENSP00000362049.1:p.Ala52Thr
ENST00000394237.6:c.*652G>A (CIMIP3)	ENSP00000377784.2:n.*652G>A
ENST00000418175.6:c.*389G>A (CIMIP3)	ENSP00000388438.2:n.*389G>A
ENST00000654459.1:c.154G>A (GUCA1A)	ENSP00000499539.1:p.Ala52Thr
ENST00000659095.1:c.*389G>A (CIMIP3)	ENSP00000499714.1:n.*389G>A
ENST00000053469.8:c.154G>A (GUCA1A)	ENSP00000053469.4:p.Ala52Thr
ENST00000372958.1:c.154G>A (GUCA1A)	ENSP00000362049.1:p.Ala52Thr
ENST00000394237.5:c.154G>A (GUCA1A)	ENSP00000377784.1:p.Ala52Thr
ENST00000418175.5:c.154G>A (GUCA1A)	ENSP00000388438.1:p.Ala52Thr
ENST00000541991.5:c.142G>A (GUCA1A)	ENSP00000437476.2:p.Ala48Thr
NM_000409.3:c.154G>A (GUCA1A)	NP_000400.2:p.Ala52Thr
XM_006715073.2:c.-129G>A (GUCA1A)	XP_006715136.1:n.-129G>A
XM_011514536.1:c.154G>A (GUCA1A)	XP_011512838.1:p.Ala52Thr
XM_011514537.1:c.154G>A (GUCA1A)	XP_011512839.1:p.Ala52Thr
XM_011514538.1:c.154G>A (GUCA1A)	XP_011512840.1:p.Ala52Thr
XM_011514539.1:c.154G>A (GUCA1A)	XP_011512841.1:p.Ala52Thr
NM_000409.4:c.154G>A (GUCA1A)	NP_000400.2:p.Ala52Thr
NM_001319061.1:c.154G>A (GUCA1A)	NP_001305990.1:p.Ala52Thr
NM_001319062.1:c.154G>A (GUCA1A)	NP_001305991.1:p.Ala52Thr
XM_011514537.2:c.154G>A (GUCA1A)	XP_011512839.1:p.Ala52Thr
NM_000409.5:c.154G>A (GUCA1A)	NP_000400.2:p.Ala52Thr
NM_001319061.2:c.154G>A (GUCA1A)	NP_001305990.1:p.Ala52Thr
NM_001319062.2:c.154G>A (GUCA1A)	NP_001305991.1:p.Ala52Thr
NM_001384910.1:c.154G>A (GUCA1A) MANE Select	NP_001371839.1:p.Ala52Thr