Canonical Allele Identifier: CA5314680

Gene: SARDH

Linked Data

• dbSNP Id: rs767266720
• ExAC: 9:136595244 G / A
• gnomAD v2: 9-136595244-G-A
• gnomAD v3: 9-133730122-G-A
• gnomAD v4: 9-133730122-G-A
• MyVariant Identifiers: chr9:g.136595244G>A (hg19) ; chr9:g.133730122G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133730122G>A , CM000671.2:g.133730122G>A	GRCh38
NC_000009.11:g.136595244G>A , CM000671.1:g.136595244G>A	GRCh37
NC_000009.10:g.135585065G>A	NCBI36
NG_008987.1:g.14834C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.756C>T MANE Select	ENSP00000403084.1:p.Val252=
ENST00000298628.6:c.756C>T	ENSP00000298628.5:p.Val252=
ENST00000371867.5:c.489C>T	ENSP00000360933.1:p.Val163=
ENST00000371872.8:c.756C>T	ENSP00000360938.4:p.Val252=
ENST00000422262.6:c.-85C>T	ENSP00000415537.3:n.-85C>T
ENST00000427237.6:c.756C>T	ENSP00000394210.2:p.Val252=
ENST00000439388.5:c.756C>T	ENSP00000403084.1:p.Val252=
ENST00000616662.4:c.756C>T	ENSP00000484683.1:p.Val252=
NM_001134707.1:c.756C>T	NP_001128179.1:p.Val252=
NM_007101.3:c.756C>T	NP_009032.2:p.Val252=
XM_006716990.2:c.756C>T	XP_006717053.1:p.Val252=
XM_011518333.1:c.756C>T	XP_011516635.1:p.Val252=
XR_929726.1:n.923C>T
XR_929727.1:n.923C>T
XR_929728.1:n.923C>T
XM_017014367.1:c.756C>T	XP_016869856.1:p.Val252=
XM_017014368.1:c.756C>T	XP_016869857.1:p.Val252=
XR_001746213.1:n.1052C>T
XR_001746214.1:n.2235C>T
XR_001746215.1:n.1054C>T
XR_001746216.1:n.1052C>T
XR_001746217.1:n.1052C>T
XR_001746218.1:n.1052C>T
XR_929726.2:n.923C>T
NM_001134707.2:c.756C>T MANE Select	NP_001128179.1:p.Val252=
NM_007101.4:c.756C>T	NP_009032.2:p.Val252=