Canonical Allele Identifier: CA174826646
Gene: GSR HGNC NCBI

Linked Data

dbSNP Id: rs987855425
gnomAD v2: 8-30585499-G-A
gnomAD v3: 8-30727982-G-A
gnomAD v4: 8-30727982-G-A
MyVariant Identifiers: chr8:g.30585499G>A (hg19) chr8:g.30727982G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30727982G>A , CM000670.2:g.30727982G>A GRCh38
NC_000008.10:g.30585499G>A , CM000670.1:g.30585499G>A GRCh37
NC_000008.9:g.30705041G>A NCBI36
NG_027719.1:g.4988C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000637.4:c.-147C>T NP_000628.2:n.-147C>T
NM_001195102.2:c.-147C>T NP_001182031.1:n.-147C>T
NM_001195103.2:c.-147C>T NP_001182032.1:n.-147C>T
NM_001195104.2:c.-147C>T NP_001182033.1:n.-147C>T
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