Canonical Allele Identifier: CA375323601

Gene: SETX

Linked Data

• gnomAD v4: 9-132264576-G-A
• MyVariant Identifiers: chr9:g.135139963G>A (hg19) ; chr9:g.132264576G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132264576G>A , CM000671.2:g.132264576G>A	GRCh38
NC_000009.11:g.135139963G>A , CM000671.1:g.135139963G>A	GRCh37
NC_000009.10:g.134129784G>A	NCBI36
NG_007946.1:g.95410C>T , LRG_268:g.95410C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000224140.6:c.7697C>T MANE Select	ENSP00000224140.5:p.Pro2566Leu
ENST00000224140.5:c.7697C>T	ENSP00000224140.5:p.Pro2566Leu
ENST00000436441.5:c.2510C>T	ENSP00000409143.1:p.Pro837Leu
ENST00000477049.1:n.847C>T
NM_015046.5:c.7697C>T , LRG_268t1:c.7697C>T	NP_055861.3:p.Pro2566Leu
XM_005272171.1:c.7784C>T	XP_005272228.1:p.Pro2595Leu
XM_005272172.1:c.7784C>T	XP_005272229.1:p.Pro2595Leu
XM_005272173.1:c.7784C>T	XP_005272230.1:p.Pro2595Leu
XM_011518404.1:c.7784C>T	XP_011516706.1:p.Pro2595Leu
XM_011518405.1:c.7784C>T	XP_011516707.1:p.Pro2595Leu
XR_929739.1:n.7613C>T
NM_001351527.1:c.7697C>T	NP_001338456.1:p.Pro2566Leu
NM_001351528.1:c.7784C>T	NP_001338457.1:p.Pro2595Leu
NM_015046.6:c.7697C>T	NP_055861.3:p.Pro2566Leu
XM_005272172.3:c.7784C>T	XP_005272229.1:p.Pro2595Leu
XM_005272173.3:c.7784C>T	XP_005272230.1:p.Pro2595Leu
XM_011518404.3:c.7784C>T	XP_011516706.1:p.Pro2595Leu
XM_011518405.3:c.7784C>T	XP_011516707.1:p.Pro2595Leu
XM_017014496.1:c.2237C>T	XP_016869985.1:p.Pro746Leu
XR_001746251.1:n.7252C>T
XR_929739.2:n.7613C>T
NM_015046.7:c.7697C>T MANE Select	NP_055861.3:p.Pro2566Leu
NM_001351528.2:c.7784C>T	NP_001338457.1:p.Pro2595Leu
NM_001351527.2:c.7697C>T	NP_001338456.1:p.Pro2566Leu