Canonical Allele Identifier: CA327512569

Gene: SMS

Linked Data

• ClinVar Variation Id: 2576954
• ClinVar RCV Id: RCV003323259
• dbSNP Id: rs879048096
• gnomAD v3: X-21978951-A-T
• gnomAD v4: X-21978951-A-T
• MyVariant Identifiers: chrX:g.21997069A>T (hg19) ; chrX:g.21978951A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21978951A>T , CM000685.2:g.21978951A>T	GRCh38
NC_000023.10:g.21997069A>T , CM000685.1:g.21997069A>T	GRCh37
NC_000023.9:g.21906990A>T	NCBI36
NG_009228.1:g.43228A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404933.7:c.735A>T MANE Select	ENSP00000385746.2:p.Lys245Asn
ENST00000379404.5:c.576A>T	ENSP00000368714.1:p.Lys192Asn
ENST00000404933.6:c.735A>T	ENSP00000385746.2:p.Lys245Asn
NM_001258423.1:c.576A>T	NP_001245352.1:p.Lys192Asn
NM_004595.4:c.735A>T	NP_004586.2:p.Lys245Asn
XM_005274582.1:c.633A>T	XP_005274639.1:p.Lys211Asn
XM_011545568.1:c.633A>T	XP_011543870.1:p.Lys211Asn
XM_005274582.2:c.633A>T	XP_005274639.1:p.Lys211Asn
XM_011545568.2:c.633A>T	XP_011543870.1:p.Lys211Asn
XM_017029753.2:c.735A>T	XP_016885242.1:p.Lys245Asn
XM_017029754.1:c.633A>T	XP_016885243.1:p.Lys211Asn
XM_017029755.1:c.633A>T	XP_016885244.1:p.Lys211Asn
XM_024452427.1:c.633A>T	XP_024308195.1:p.Lys211Asn
NM_004595.5:c.735A>T MANE Select	NP_004586.2:p.Lys245Asn
NM_001258423.2:c.576A>T	NP_001245352.1:p.Lys192Asn