Canonical Allele Identifier: CA370887485

Gene: GSR

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.30689213A>G , CM000670.2:g.30689213A>G	GRCh38
NC_000008.10:g.30546730A>G , CM000670.1:g.30546730A>G	GRCh37
NC_000008.9:g.30666272A>G	NCBI36
NG_027719.1:g.43757T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221130.11:c.989T>C MANE Select	ENSP00000221130.5:p.Leu330Pro
ENST00000643525.1:n.851T>C
ENST00000643653.1:c.1073T>C
ENST00000221130.9:c.989T>C	ENSP00000221130.5:p.Leu330Pro
ENST00000523295.5:c.618T>C	ENSP00000431044.1:n.618T>C
ENST00000537535.5:c.796-5014T>C	ENSP00000438845.1:n.796-5014T>C
ENST00000541648.5:c.882+3756T>C	ENSP00000444559.1:n.882+3756T>C
ENST00000546342.5:c.902T>C	ENSP00000445516.1:p.Leu301Pro
NM_000637.3:c.989T>C	NP_000628.2:p.Leu330Pro
NM_001195102.1:c.902T>C	NP_001182031.1:p.Leu301Pro
NM_001195103.1:c.882+3756T>C	NP_001182032.1:n.882+3756T>C
NM_001195104.1:c.796-5014T>C	NP_001182033.1:n.796-5014T>C
NM_000637.4:c.989T>C	NP_000628.2:p.Leu330Pro
NM_001195102.2:c.902T>C	NP_001182031.1:p.Leu301Pro
NM_001195103.2:c.882+3756T>C	NP_001182032.1:n.882+3756T>C
NM_001195104.2:c.796-5014T>C	NP_001182033.1:n.796-5014T>C
NM_000637.5:c.989T>C MANE Select	NP_000628.2:p.Leu330Pro
NM_001195102.3:c.902T>C	NP_001182031.1:p.Leu301Pro
NM_001195103.3:c.882+3756T>C	NP_001182032.1:n.882+3756T>C
NM_001195104.3:c.796-5014T>C	NP_001182033.1:n.796-5014T>C