Canonical Allele Identifier: CA2695065351

Gene: SSR4

Linked Data

• gnomAD v4: X-153797945-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153797945G>T , CM000685.2:g.153797945G>T	GRCh38
NC_000023.10:g.153063400G>T , CM000685.1:g.153063400G>T	GRCh37
NC_000023.9:g.152716594G>T	NCBI36
NG_041795.1:g.8771G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.352-126G>T MANE Select	ENSP00000359103.3:n.352-126G>T
ENST00000320857.7:c.352-126G>T	ENSP00000317331.3:n.352-126G>T
ENST00000370085.3:c.277-126G>T	ENSP00000359102.3:n.277-126G>T
ENST00000370086.7:c.352-126G>T	ENSP00000359103.3:n.352-126G>T
ENST00000370087.5:c.352-126G>T	ENSP00000359104.1:n.352-126G>T
ENST00000447375.1:n.192-126G>T
ENST00000460616.5:n.2060-126G>T
ENST00000471880.5:n.555-126G>T
ENST00000482902.5:n.2179-126G>T
ENST00000485612.5:n.467-126G>T
ENST00000486204.5:n.424-126G>T
NM_001204526.1:c.385-126G>T	NP_001191455.1:n.385-126G>T
NM_001204527.1:c.376-126G>T	NP_001191456.1:n.376-126G>T
NM_006280.2:c.352-126G>T	NP_006271.1:n.352-126G>T
NR_037927.1:n.697-126G>T
XM_011531186.1:c.352-126G>T	XP_011529488.1:n.352-126G>T
XM_011531187.1:c.352-126G>T	XP_011529489.1:n.352-126G>T
XM_017029756.1:c.163-126G>T	XP_016885245.1:n.163-126G>T
XM_017029757.1:c.163-126G>T	XP_016885246.1:n.163-126G>T
XM_024452428.1:c.163-126G>T	XP_024308196.1:n.163-126G>T
NM_001204527.2:c.376-126G>T	NP_001191456.1:n.376-126G>T
NM_006280.3:c.352-126G>T MANE Select	NP_006271.1:n.352-126G>T