Canonical Allele Identifier: CA375426699

Gene: SARDH

Linked Data

• MyVariant Identifiers: chr9:g.136595246C>G (hg19) ; chr9:g.133730124C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133730124C>G , CM000671.2:g.133730124C>G	GRCh38
NC_000009.11:g.136595246C>G , CM000671.1:g.136595246C>G	GRCh37
NC_000009.10:g.135585067C>G	NCBI36
NG_008987.1:g.14832G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.754G>C MANE Select	ENSP00000403084.1:p.Val252Leu
ENST00000298628.6:c.754G>C	ENSP00000298628.5:p.Val252Leu
ENST00000371867.5:c.487G>C	ENSP00000360933.1:p.Val163Leu
ENST00000371872.8:c.754G>C	ENSP00000360938.4:p.Val252Leu
ENST00000422262.6:c.-87G>C	ENSP00000415537.3:n.-87G>C
ENST00000427237.6:c.754G>C	ENSP00000394210.2:p.Val252Leu
ENST00000439388.5:c.754G>C	ENSP00000403084.1:p.Val252Leu
ENST00000616662.4:c.754G>C	ENSP00000484683.1:p.Val252Leu
NM_001134707.1:c.754G>C	NP_001128179.1:p.Val252Leu
NM_007101.3:c.754G>C	NP_009032.2:p.Val252Leu
XM_006716990.2:c.754G>C	XP_006717053.1:p.Val252Leu
XM_011518333.1:c.754G>C	XP_011516635.1:p.Val252Leu
XR_929726.1:n.921G>C
XR_929727.1:n.921G>C
XR_929728.1:n.921G>C
XM_017014367.1:c.754G>C	XP_016869856.1:p.Val252Leu
XM_017014368.1:c.754G>C	XP_016869857.1:p.Val252Leu
XR_001746213.1:n.1050G>C
XR_001746214.1:n.2233G>C
XR_001746215.1:n.1052G>C
XR_001746216.1:n.1050G>C
XR_001746217.1:n.1050G>C
XR_001746218.1:n.1050G>C
XR_929726.2:n.921G>C
NM_001134707.2:c.754G>C MANE Select	NP_001128179.1:p.Val252Leu
NM_007101.4:c.754G>C	NP_009032.2:p.Val252Leu