Canonical Allele Identifier: CA130303

Gene: SARDH

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133733963C>A , CM000671.2:g.133733963C>A	GRCh38
NC_000009.11:g.136599085C>A , CM000671.1:g.136599085C>A	GRCh37
NC_000009.10:g.135588906C>A	NCBI36
NG_008987.1:g.10993G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001134707.2:c.211G>T MANE Select	NP_001128179.1:p.Val71Phe
ENST00000439388.6:c.211G>T MANE Select	ENSP00000403084.1:p.Val71Phe
NM_001134707.1:c.211G>T	NP_001128179.1:p.Val71Phe
NM_007101.3:c.211G>T	NP_009032.2:p.Val71Phe
NM_007101.4:c.211G>T	NP_009032.2:p.Val71Phe
ENST00000298628.6:c.211G>T	ENSP00000298628.5:p.Val71Phe
ENST00000371867.5:c.-57G>T	ENSP00000360933.1:n.-57G>T
ENST00000371872.8:c.211G>T	ENSP00000360938.4:p.Val71Phe
ENST00000427237.6:c.211G>T	ENSP00000394210.2:p.Val71Phe
ENST00000439388.5:c.211G>T	ENSP00000403084.1:p.Val71Phe
ENST00000616662.4:c.211G>T	ENSP00000484683.1:p.Val71Phe
XM_006716990.2:c.211G>T	XP_006717053.1:p.Val71Phe
XM_011518333.1:c.211G>T	XP_011516635.1:p.Val71Phe
XM_017014367.1:c.211G>T	XP_016869856.1:p.Val71Phe
XM_017014368.1:c.211G>T	XP_016869857.1:p.Val71Phe
XR_001746213.1:n.507G>T
XR_001746214.1:n.1690G>T
XR_001746215.1:n.509G>T
XR_001746216.1:n.507G>T
XR_001746217.1:n.507G>T
XR_001746218.1:n.507G>T
XR_929726.1:n.378G>T
XR_929726.2:n.378G>T
XR_929727.1:n.378G>T
XR_929728.1:n.378G>T