Canonical Allele Identifier: CA467620375

Gene: SARDH

Linked Data

• gnomAD v4: 9-133729843-G-T
• COSMIC: COSM1624681 ; COSM3664205 ; COSM3664206
• MyVariant Identifiers: chr9:g.136594965G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133729843G>T , CM000671.2:g.133729843G>T	GRCh38
NC_000009.11:g.136594965G>T , CM000671.1:g.136594965G>T	GRCh37
NC_000009.10:g.135584786G>T	NCBI36
NG_008987.1:g.15113C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.837C>A MANE Select	ENSP00000403084.1:p.Gly279=
ENST00000298628.6:c.837C>A	ENSP00000298628.5:p.Gly279=
ENST00000371867.5:c.570C>A	ENSP00000360933.1:p.Gly190=
ENST00000371872.8:c.837C>A	ENSP00000360938.4:p.Gly279=
ENST00000422262.6:c.-4C>A	ENSP00000415537.3:n.-4C>A
ENST00000427237.6:c.837C>A	ENSP00000394210.2:p.Gly279=
ENST00000439388.5:c.837C>A	ENSP00000403084.1:p.Gly279=
ENST00000616662.4:c.837C>A	ENSP00000484683.1:p.Gly279=
NM_001134707.1:c.837C>A	NP_001128179.1:p.Gly279=
NM_007101.3:c.837C>A	NP_009032.2:p.Gly279=
XM_006716990.2:c.837C>A	XP_006717053.1:p.Gly279=
XM_011518333.1:c.837C>A	XP_011516635.1:p.Gly279=
XR_929726.1:n.1004C>A
XR_929727.1:n.1004C>A
XR_929728.1:n.1004C>A
XM_017014367.1:c.837C>A	XP_016869856.1:p.Gly279=
XM_017014368.1:c.837C>A	XP_016869857.1:p.Gly279=
XR_001746213.1:n.1133C>A
XR_001746214.1:n.2316C>A
XR_001746215.1:n.1135C>A
XR_001746216.1:n.1133C>A
XR_001746217.1:n.1133C>A
XR_001746218.1:n.1133C>A
XR_929726.2:n.1004C>A
NM_001134707.2:c.837C>A MANE Select	NP_001128179.1:p.Gly279=
NM_007101.4:c.837C>A	NP_009032.2:p.Gly279=