Canonical Allele Identifier: CA4701553

Gene: GSR

Linked Data

• ClinVar Variation Id: 377268
• ClinVar RCV Id: RCV000430217 ; RCV003922698
• dbSNP Id: rs28641651
• ExAC: 8:30567424 A / T
• gnomAD v2: 8-30567424-A-T
• gnomAD v3: 8-30709907-A-T
• gnomAD v4: 8-30709907-A-T
• MyVariant Identifiers: chr8:g.30567424A>T (hg19) ; chr8:g.30709907A>T (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.30709907A>T , CM000670.2:g.30709907A>T	GRCh38
NC_000008.10:g.30567424A>T , CM000670.1:g.30567424A>T	GRCh37
NC_000008.9:g.30686966A>T	NCBI36
NG_027719.1:g.23063T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221130.11:c.334-5T>A MANE Select	ENSP00000221130.5:n.334-5T>A
ENST00000643525.1:n.81-5T>A
ENST00000643653.1:c.200-5T>A
ENST00000221130.9:c.334-5T>A	ENSP00000221130.5:n.334-5T>A
ENST00000521479.1:c.-3-5T>A	ENSP00000430825.1:n.-3-5T>A
ENST00000523295.5:c.166-5T>A	ENSP00000431044.1:n.166-5T>A
ENST00000537535.5:c.334-5T>A	ENSP00000438845.1:n.334-5T>A
ENST00000541648.5:c.334-5T>A	ENSP00000444559.1:n.334-5T>A
ENST00000546342.5:c.334-5T>A	ENSP00000445516.1:n.334-5T>A
NM_000637.3:c.334-5T>A	NP_000628.2:n.334-5T>A
NM_001195102.1:c.334-5T>A	NP_001182031.1:n.334-5T>A
NM_001195103.1:c.334-5T>A	NP_001182032.1:n.334-5T>A
NM_001195104.1:c.334-5T>A	NP_001182033.1:n.334-5T>A
NM_000637.4:c.334-5T>A	NP_000628.2:n.334-5T>A
NM_001195102.2:c.334-5T>A	NP_001182031.1:n.334-5T>A
NM_001195103.2:c.334-5T>A	NP_001182032.1:n.334-5T>A
NM_001195104.2:c.334-5T>A	NP_001182033.1:n.334-5T>A
NM_000637.5:c.334-5T>A MANE Select	NP_000628.2:n.334-5T>A
NM_001195102.3:c.334-5T>A	NP_001182031.1:n.334-5T>A
NM_001195103.3:c.334-5T>A	NP_001182032.1:n.334-5T>A
NM_001195104.3:c.334-5T>A	NP_001182033.1:n.334-5T>A