Canonical Allele Identifier: CA4701307
Community Standard Title: NM_000637.5(GSR):c.1041+42A>G
Gene: GSR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30689119T>C , CM000670.2:g.30689119T>C GRCh38
NC_000008.10:g.30546636T>C , CM000670.1:g.30546636T>C GRCh37
NC_000008.9:g.30666178T>C NCBI36
NG_027719.1:g.43851A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000637.5:c.1041+42A>G MANE Select NP_000628.2:n.1041+42A>G
ENST00000221130.11:c.1041+42A>G MANE Select ENSP00000221130.5:n.1041+42A>G
NM_000637.3:c.1041+42A>G NP_000628.2:n.1041+42A>G
NM_000637.4:c.1041+42A>G NP_000628.2:n.1041+42A>G
NM_001195102.1:c.954+42A>G NP_001182031.1:n.954+42A>G
NM_001195102.2:c.954+42A>G NP_001182031.1:n.954+42A>G
NM_001195102.3:c.954+42A>G NP_001182031.1:n.954+42A>G
NM_001195103.1:c.882+3850A>G NP_001182032.1:n.882+3850A>G
NM_001195103.2:c.882+3850A>G NP_001182032.1:n.882+3850A>G
NM_001195103.3:c.882+3850A>G NP_001182032.1:n.882+3850A>G
NM_001195104.1:c.796-4920A>G NP_001182033.1:n.796-4920A>G
NM_001195104.2:c.796-4920A>G NP_001182033.1:n.796-4920A>G
NM_001195104.3:c.796-4920A>G NP_001182033.1:n.796-4920A>G
ENST00000221130.9:c.1041+42A>G ENSP00000221130.5:n.1041+42A>G
ENST00000523295.5:c.670+42A>G ENSP00000431044.1:n.670+42A>G
ENST00000537535.5:c.796-4920A>G ENSP00000438845.1:n.796-4920A>G
ENST00000541648.5:c.882+3850A>G ENSP00000444559.1:n.882+3850A>G
ENST00000546342.5:c.954+42A>G ENSP00000445516.1:n.954+42A>G
ENST00000643525.1:n.903+42A>G
ENST00000643653.1:c.1125+42A>G