This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA361706184
Gene: SLC26A2 HGNC NCBI
gnomAD v4:
chr5-149980344-G-A
MyVariant.info:
GRCh38 chr5:g.149980344G>A
GRCh37 chr5:g.149359907G>A
Revel Score:
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149980344G>A , CM000667.2:g.149980344G>A GRCh38
NC_000005.9:g.149359907G>A , CM000667.1:g.149359907G>A GRCh37
NC_000005.8:g.149340100G>A NCBI36
NG_007147.2:g.21462G>A , LRG_684:g.21462G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000286298.5:c.751G>A MANE Select ENSP00000286298.4:p.Ala251Thr
ENST00000286298.4:c.751G>A ENSP00000286298.4:p.Ala251Thr
ENST00000503336.1:c.372+1993G>A ENSP00000426053.1:n.372+1993G>A
NM_000112.3:c.751G>A , LRG_684t1:c.751G>A NP_000103.2:p.Ala251Thr
XM_017009191.2:c.751G>A XP_016864680.1:p.Ala251Thr
NM_000112.4:c.751G>A MANE Select NP_000103.2:p.Ala251Thr
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