Canonical Allele Identifier: CA467620169

Gene: SARDH

Linked Data

• MyVariant Identifiers: chr9:g.136594920G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133729798G>A , CM000671.2:g.133729798G>A	GRCh38
NC_000009.11:g.136594920G>A , CM000671.1:g.136594920G>A	GRCh37
NC_000009.10:g.135584741G>A	NCBI36
NG_008987.1:g.15158C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.882C>T MANE Select	ENSP00000403084.1:p.Ala294=
ENST00000298628.6:c.882C>T	ENSP00000298628.5:p.Ala294=
ENST00000371867.5:c.615C>T	ENSP00000360933.1:p.Ala205=
ENST00000371872.8:c.882C>T	ENSP00000360938.4:p.Ala294=
ENST00000422262.6:c.42C>T	ENSP00000415537.3:p.Ala14=
ENST00000427237.6:c.882C>T	ENSP00000394210.2:p.Ala294=
ENST00000439388.5:c.882C>T	ENSP00000403084.1:p.Ala294=
ENST00000616662.4:c.882C>T	ENSP00000484683.1:p.Ala294=
NM_001134707.1:c.882C>T	NP_001128179.1:p.Ala294=
NM_007101.3:c.882C>T	NP_009032.2:p.Ala294=
XM_006716990.2:c.882C>T	XP_006717053.1:p.Ala294=
XM_011518333.1:c.882C>T	XP_011516635.1:p.Ala294=
XR_929726.1:n.1049C>T
XR_929727.1:n.1049C>T
XR_929728.1:n.1049C>T
XM_017014367.1:c.882C>T	XP_016869856.1:p.Ala294=
XM_017014368.1:c.882C>T	XP_016869857.1:p.Ala294=
XR_001746213.1:n.1178C>T
XR_001746214.1:n.2361C>T
XR_001746215.1:n.1180C>T
XR_001746216.1:n.1178C>T
XR_001746217.1:n.1178C>T
XR_001746218.1:n.1178C>T
XR_929726.2:n.1049C>T
NM_001134707.2:c.882C>T MANE Select	NP_001128179.1:p.Ala294=
NM_007101.4:c.882C>T	NP_009032.2:p.Ala294=