Canonical Allele Identifier: CA2832560023
Gene: SARDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133729727_133729729dup , CM000671.2:g.133729727_133729729dup GRCh38
NC_000009.11:g.136594849_136594851dup , CM000671.1:g.136594849_136594851dup GRCh37
NC_000009.10:g.135584670_135584672dup NCBI36
NG_008987.1:g.15230_15232dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000439388.6:c.915+39_915+41dup MANE Select ENSP00000403084.1:n.915+39_915+41dup
ENST00000298628.6:c.915+39_915+41dup ENSP00000298628.5:n.915+39_915+41dup
ENST00000371867.5:c.648+39_648+41dup ENSP00000360933.1:n.648+39_648+41dup
ENST00000371872.8:c.915+39_915+41dup ENSP00000360938.4:n.915+39_915+41dup
ENST00000422262.6:c.75+39_75+41dup ENSP00000415537.3:n.75+39_75+41dup
ENST00000427237.6:c.915+39_915+41dup ENSP00000394210.2:n.915+39_915+41dup
ENST00000439388.5:c.915+39_915+41dup ENSP00000403084.1:n.915+39_915+41dup
ENST00000616662.4:c.915+39_915+41dup ENSP00000484683.1:n.915+39_915+41dup
NM_001134707.1:c.915+39_915+41dup NP_001128179.1:n.915+39_915+41dup
NM_007101.3:c.915+39_915+41dup NP_009032.2:n.915+39_915+41dup
XM_006716990.2:c.915+39_915+41dup XP_006717053.1:n.915+39_915+41dup
XM_011518333.1:c.915+39_915+41dup XP_011516635.1:n.915+39_915+41dup
XR_929726.1:n.1082+39_1082+41dup
XR_929727.1:n.1082+39_1082+41dup
XR_929728.1:n.1082+39_1082+41dup
XM_017014367.1:c.915+39_915+41dup XP_016869856.1:n.915+39_915+41dup
XM_017014368.1:c.915+39_915+41dup XP_016869857.1:n.915+39_915+41dup
XR_001746213.1:n.1211+39_1211+41dup
XR_001746214.1:n.2394+39_2394+41dup
XR_001746215.1:n.1213+39_1213+41dup
XR_001746216.1:n.1211+39_1211+41dup
XR_001746217.1:n.1211+39_1211+41dup
XR_001746218.1:n.1211+39_1211+41dup
XR_929726.2:n.1082+39_1082+41dup
NM_001134707.2:c.915+39_915+41dup MANE Select NP_001128179.1:n.915+39_915+41dup
NM_007101.4:c.915+39_915+41dup NP_009032.2:n.915+39_915+41dup