Canonical Allele Identifier: CA370889957
Gene: GSR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30703221C>A , CM000670.2:g.30703221C>A GRCh38
NC_000008.10:g.30560738C>A , CM000670.1:g.30560738C>A GRCh37
NC_000008.9:g.30680280C>A NCBI36
NG_027719.1:g.29749G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221130.11:c.512G>T MANE Select ENSP00000221130.5:p.Arg171Leu
ENST00000643525.1:n.374G>T
ENST00000643653.1:c.596G>T
ENST00000221130.9:c.512G>T ENSP00000221130.5:p.Arg171Leu
ENST00000521479.1:c.176G>T ENSP00000430825.1:p.Arg59Leu
ENST00000523295.5:c.324+4851G>T ENSP00000431044.1:n.324+4851G>T
ENST00000537535.5:c.512G>T ENSP00000438845.1:p.Arg171Leu
ENST00000541648.5:c.512G>T ENSP00000444559.1:p.Arg171Leu
ENST00000546342.5:c.512G>T ENSP00000445516.1:p.Arg171Leu
NM_000637.3:c.512G>T NP_000628.2:p.Arg171Leu
NM_001195102.1:c.512G>T NP_001182031.1:p.Arg171Leu
NM_001195103.1:c.512G>T NP_001182032.1:p.Arg171Leu
NM_001195104.1:c.512G>T NP_001182033.1:p.Arg171Leu
NM_000637.4:c.512G>T NP_000628.2:p.Arg171Leu
NM_001195102.2:c.512G>T NP_001182031.1:p.Arg171Leu
NM_001195103.2:c.512G>T NP_001182032.1:p.Arg171Leu
NM_001195104.2:c.512G>T NP_001182033.1:p.Arg171Leu
NM_000637.5:c.512G>T MANE Select NP_000628.2:p.Arg171Leu
NM_001195102.3:c.512G>T NP_001182031.1:p.Arg171Leu
NM_001195103.3:c.512G>T NP_001182032.1:p.Arg171Leu
NM_001195104.3:c.512G>T NP_001182033.1:p.Arg171Leu