Canonical Allele Identifier: CA375428803

Gene: SARDH

Linked Data

• gnomAD v4: 9-133671603-G-A
• MyVariant Identifiers: chr9:g.136536725G>A (hg19) ; chr9:g.133671603G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133671603G>A , CM000671.2:g.133671603G>A	GRCh38
NC_000009.11:g.136536725G>A , CM000671.1:g.136536725G>A	GRCh37
NC_000009.10:g.135526546G>A	NCBI36
NG_008987.1:g.73353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439388.6:c.2258C>T MANE Select	ENSP00000403084.1:p.Ala753Val
ENST00000371868.5:c.542C>T	ENSP00000360934.1:p.Ala181Val
ENST00000371872.8:c.2258C>T	ENSP00000360938.4:p.Ala753Val
ENST00000422262.6:c.1418C>T	ENSP00000415537.3:p.Ala473Val
ENST00000439388.5:c.2258C>T	ENSP00000403084.1:p.Ala753Val
NM_001134707.1:c.2258C>T	NP_001128179.1:p.Ala753Val
NM_007101.3:c.2258C>T	NP_009032.2:p.Ala753Val
XM_006716990.2:c.2258C>T	XP_006717053.1:p.Ala753Val
XM_011518333.1:c.2258C>T	XP_011516635.1:p.Ala753Val
XR_929726.1:n.2425C>T
XR_929727.1:n.2425C>T
XR_929728.1:n.2425C>T
XM_017014367.1:c.2258C>T	XP_016869856.1:p.Ala753Val
XM_017014368.1:c.2258C>T	XP_016869857.1:p.Ala753Val
XR_001746213.1:n.2554C>T
XR_001746214.1:n.3737C>T
XR_001746215.1:n.2556C>T
XR_001746216.1:n.2554C>T
XR_001746217.1:n.2554C>T
XR_001746218.1:n.2406C>T
XR_002956762.1:n.2510C>T
XR_929726.2:n.2425C>T
NM_001134707.2:c.2258C>T MANE Select	NP_001128179.1:p.Ala753Val
NM_007101.4:c.2258C>T	NP_009032.2:p.Ala753Val