Canonical Allele Identifier: CA415187094

Gene: SSR4

Linked Data

• gnomAD v4: X-153798125-G-C
• MyVariant Identifiers: chrX:g.153063580G>C (hg19) ; chrX:g.153798125G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798125G>C , CM000685.2:g.153798125G>C	GRCh38
NC_000023.10:g.153063580G>C , CM000685.1:g.153063580G>C	GRCh37
NC_000023.9:g.152716774G>C	NCBI36
NG_041795.1:g.8951G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.406G>C MANE Select	ENSP00000359103.3:p.Val136Leu
ENST00000320857.7:c.406G>C	ENSP00000317331.3:p.Val136Leu
ENST00000370085.3:c.331G>C	ENSP00000359102.3:p.Val111Leu
ENST00000370086.7:c.406G>C	ENSP00000359103.3:p.Val136Leu
ENST00000370087.5:c.406G>C	ENSP00000359104.1:p.Val136Leu
ENST00000447375.1:n.246G>C
ENST00000460616.5:n.2114G>C
ENST00000471880.5:n.609G>C
ENST00000482902.5:n.2233G>C
ENST00000485612.5:n.521G>C
ENST00000486204.5:n.478G>C
NM_001204526.1:c.439G>C	NP_001191455.1:p.Val147Leu
NM_001204527.1:c.430G>C	NP_001191456.1:p.Val144Leu
NM_006280.2:c.406G>C	NP_006271.1:p.Val136Leu
NR_037927.1:n.751G>C
XM_011531186.1:c.406G>C	XP_011529488.1:p.Val136Leu
XM_011531187.1:c.406G>C	XP_011529489.1:p.Val136Leu
XM_017029756.1:c.217G>C	XP_016885245.1:p.Val73Leu
XM_017029757.1:c.217G>C	XP_016885246.1:p.Val73Leu
XM_024452428.1:c.217G>C	XP_024308196.1:p.Val73Leu
NM_001204527.2:c.430G>C	NP_001191456.1:p.Val144Leu
NM_006280.3:c.406G>C MANE Select	NP_006271.1:p.Val136Leu