Canonical Allele Identifier: CA375426270

Gene: SARDH

Linked Data

• gnomAD v4: 9-133729820-G-T
• MyVariant Identifiers: chr9:g.136594942G>T (hg19) ; chr9:g.133729820G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133729820G>T , CM000671.2:g.133729820G>T	GRCh38
NC_000009.11:g.136594942G>T , CM000671.1:g.136594942G>T	GRCh37
NC_000009.10:g.135584763G>T	NCBI36
NG_008987.1:g.15136C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000439388.6:c.860C>A MANE Select	ENSP00000403084.1:p.Pro287Gln
ENST00000298628.6:c.860C>A	ENSP00000298628.5:p.Pro287Gln
ENST00000371867.5:c.593C>A	ENSP00000360933.1:p.Pro198Gln
ENST00000371872.8:c.860C>A	ENSP00000360938.4:p.Pro287Gln
ENST00000422262.6:c.20C>A	ENSP00000415537.3:p.Pro7Gln
ENST00000427237.6:c.860C>A	ENSP00000394210.2:p.Pro287Gln
ENST00000439388.5:c.860C>A	ENSP00000403084.1:p.Pro287Gln
ENST00000616662.4:c.860C>A	ENSP00000484683.1:p.Pro287Gln
NM_001134707.1:c.860C>A	NP_001128179.1:p.Pro287Gln
NM_007101.3:c.860C>A	NP_009032.2:p.Pro287Gln
XM_006716990.2:c.860C>A	XP_006717053.1:p.Pro287Gln
XM_011518333.1:c.860C>A	XP_011516635.1:p.Pro287Gln
XR_929726.1:n.1027C>A
XR_929727.1:n.1027C>A
XR_929728.1:n.1027C>A
XM_017014367.1:c.860C>A	XP_016869856.1:p.Pro287Gln
XM_017014368.1:c.860C>A	XP_016869857.1:p.Pro287Gln
XR_001746213.1:n.1156C>A
XR_001746214.1:n.2339C>A
XR_001746215.1:n.1158C>A
XR_001746216.1:n.1156C>A
XR_001746217.1:n.1156C>A
XR_001746218.1:n.1156C>A
XR_929726.2:n.1027C>A
NM_001134707.2:c.860C>A MANE Select	NP_001128179.1:p.Pro287Gln
NM_007101.4:c.860C>A	NP_009032.2:p.Pro287Gln