Canonical Allele Identifier: CA12974530
Gene: SARDH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133721245A>G , CM000671.2:g.133721245A>G GRCh38
NC_000009.11:g.136586367A>G , CM000671.1:g.136586367A>G GRCh37
NC_000009.10:g.135576188A>G NCBI36
NG_008987.1:g.23711T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000439388.6:c.916-2203T>C MANE Select ENSP00000403084.1:n.916-2203T>C
ENST00000371867.5:c.649-2203T>C ENSP00000360933.1:n.649-2203T>C
ENST00000371872.8:c.916-2203T>C ENSP00000360938.4:n.916-2203T>C
ENST00000422262.6:c.76-2203T>C ENSP00000415537.3:n.76-2203T>C
ENST00000427237.6:c.916-2203T>C ENSP00000394210.2:n.916-2203T>C
ENST00000439388.5:c.916-2203T>C ENSP00000403084.1:n.916-2203T>C
ENST00000616662.4:c.916-2203T>C ENSP00000484683.1:n.916-2203T>C
NM_001134707.1:c.916-2203T>C NP_001128179.1:n.916-2203T>C
NM_007101.3:c.916-2203T>C NP_009032.2:n.916-2203T>C
XM_006716990.2:c.916-2203T>C XP_006717053.1:n.916-2203T>C
XM_011518333.1:c.916-2203T>C XP_011516635.1:n.916-2203T>C
XR_929726.1:n.1083-2203T>C
XR_929727.1:n.1083-2203T>C
XR_929728.1:n.1083-2203T>C
XM_017014367.1:c.916-2203T>C XP_016869856.1:n.916-2203T>C
XM_017014368.1:c.916-2203T>C XP_016869857.1:n.916-2203T>C
XR_001746213.1:n.1212-2203T>C
XR_001746214.1:n.2395-2203T>C
XR_001746215.1:n.1214-2203T>C
XR_001746216.1:n.1212-2203T>C
XR_001746217.1:n.1212-2203T>C
XR_001746218.1:n.1212-2203T>C
XR_929726.2:n.1083-2203T>C
NM_001134707.2:c.916-2203T>C MANE Select NP_001128179.1:n.916-2203T>C
NM_007101.4:c.916-2203T>C NP_009032.2:n.916-2203T>C
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