Canonical Allele Identifier: CA375426259

Gene: SARDH

Linked Data

• MyVariant Identifiers: chr9:g.136594940G>C (hg19) ; chr9:g.133729818G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133729818G>C , CM000671.2:g.133729818G>C	GRCh38
NC_000009.11:g.136594940G>C , CM000671.1:g.136594940G>C	GRCh37
NC_000009.10:g.135584761G>C	NCBI36
NG_008987.1:g.15138C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.862C>G MANE Select	ENSP00000403084.1:p.Leu288Val
ENST00000298628.6:c.862C>G	ENSP00000298628.5:p.Leu288Val
ENST00000371867.5:c.595C>G	ENSP00000360933.1:p.Leu199Val
ENST00000371872.8:c.862C>G	ENSP00000360938.4:p.Leu288Val
ENST00000422262.6:c.22C>G	ENSP00000415537.3:p.Leu8Val
ENST00000427237.6:c.862C>G	ENSP00000394210.2:p.Leu288Val
ENST00000439388.5:c.862C>G	ENSP00000403084.1:p.Leu288Val
ENST00000616662.4:c.862C>G	ENSP00000484683.1:p.Leu288Val
NM_001134707.1:c.862C>G	NP_001128179.1:p.Leu288Val
NM_007101.3:c.862C>G	NP_009032.2:p.Leu288Val
XM_006716990.2:c.862C>G	XP_006717053.1:p.Leu288Val
XM_011518333.1:c.862C>G	XP_011516635.1:p.Leu288Val
XR_929726.1:n.1029C>G
XR_929727.1:n.1029C>G
XR_929728.1:n.1029C>G
XM_017014367.1:c.862C>G	XP_016869856.1:p.Leu288Val
XM_017014368.1:c.862C>G	XP_016869857.1:p.Leu288Val
XR_001746213.1:n.1158C>G
XR_001746214.1:n.2341C>G
XR_001746215.1:n.1160C>G
XR_001746216.1:n.1158C>G
XR_001746217.1:n.1158C>G
XR_001746218.1:n.1158C>G
XR_929726.2:n.1029C>G
NM_001134707.2:c.862C>G MANE Select	NP_001128179.1:p.Leu288Val
NM_007101.4:c.862C>G	NP_009032.2:p.Leu288Val