Canonical Allele Identifier: CA467620519

Gene: SARDH

Linked Data

• gnomAD v4: 9-133730065-T-C
• MyVariant Identifiers: chr9:g.136595187T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133730065T>C , CM000671.2:g.133730065T>C	GRCh38
NC_000009.11:g.136595187T>C , CM000671.1:g.136595187T>C	GRCh37
NC_000009.10:g.135585008T>C	NCBI36
NG_008987.1:g.14891A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.813A>G MANE Select	ENSP00000403084.1:p.Ala271=
ENST00000298628.6:c.813A>G	ENSP00000298628.5:p.Ala271=
ENST00000371867.5:c.546A>G	ENSP00000360933.1:p.Ala182=
ENST00000371872.8:c.813A>G	ENSP00000360938.4:p.Ala271=
ENST00000422262.6:c.-28A>G	ENSP00000415537.3:n.-28A>G
ENST00000427237.6:c.813A>G	ENSP00000394210.2:p.Ala271=
ENST00000439388.5:c.813A>G	ENSP00000403084.1:p.Ala271=
ENST00000616662.4:c.813A>G	ENSP00000484683.1:p.Ala271=
NM_001134707.1:c.813A>G	NP_001128179.1:p.Ala271=
NM_007101.3:c.813A>G	NP_009032.2:p.Ala271=
XM_006716990.2:c.813A>G	XP_006717053.1:p.Ala271=
XM_011518333.1:c.813A>G	XP_011516635.1:p.Ala271=
XR_929726.1:n.980A>G
XR_929727.1:n.980A>G
XR_929728.1:n.980A>G
XM_017014367.1:c.813A>G	XP_016869856.1:p.Ala271=
XM_017014368.1:c.813A>G	XP_016869857.1:p.Ala271=
XR_001746213.1:n.1109A>G
XR_001746214.1:n.2292A>G
XR_001746215.1:n.1111A>G
XR_001746216.1:n.1109A>G
XR_001746217.1:n.1109A>G
XR_001746218.1:n.1109A>G
XR_929726.2:n.980A>G
NM_001134707.2:c.813A>G MANE Select	NP_001128179.1:p.Ala271=
NM_007101.4:c.813A>G	NP_009032.2:p.Ala271=