Canonical Allele Identifier: CA12787675
Community Standard Title: NM_000637.5(GSR):c.307-222C>T
Gene: GSR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30712310G>A , CM000670.2:g.30712310G>A GRCh38
NC_000008.10:g.30569827G>A , CM000670.1:g.30569827G>A GRCh37
NC_000008.9:g.30689369G>A NCBI36
NG_027719.1:g.20660C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000637.5:c.307-222C>T MANE Select NP_000628.2:n.307-222C>T
ENST00000221130.11:c.307-222C>T MANE Select ENSP00000221130.5:n.307-222C>T
NM_000637.3:c.307-222C>T NP_000628.2:n.307-222C>T
NM_000637.4:c.307-222C>T NP_000628.2:n.307-222C>T
NM_001195102.1:c.307-222C>T NP_001182031.1:n.307-222C>T
NM_001195102.2:c.307-222C>T NP_001182031.1:n.307-222C>T
NM_001195102.3:c.307-222C>T NP_001182031.1:n.307-222C>T
NM_001195103.1:c.307-222C>T NP_001182032.1:n.307-222C>T
NM_001195103.2:c.307-222C>T NP_001182032.1:n.307-222C>T
NM_001195103.3:c.307-222C>T NP_001182032.1:n.307-222C>T
NM_001195104.1:c.307-222C>T NP_001182033.1:n.307-222C>T
NM_001195104.2:c.307-222C>T NP_001182033.1:n.307-222C>T
NM_001195104.3:c.307-222C>T NP_001182033.1:n.307-222C>T
ENST00000221130.9:c.307-222C>T ENSP00000221130.5:n.307-222C>T
ENST00000521479.1:c.-30-222C>T ENSP00000430825.1:n.-30-222C>T
ENST00000523295.5:c.139-222C>T ENSP00000431044.1:n.139-222C>T
ENST00000537535.5:c.307-222C>T ENSP00000438845.1:n.307-222C>T
ENST00000541648.5:c.307-222C>T ENSP00000444559.1:n.307-222C>T
ENST00000546342.5:c.307-222C>T ENSP00000445516.1:n.307-222C>T
ENST00000643525.1:n.54-222C>T
ENST00000643653.1:c.173-222C>T