Canonical Allele Identifier: CA412569159

Gene: SMS

Linked Data

• MyVariant Identifiers: chrX:g.21997079T>A (hg19) ; chrX:g.21978961T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21978961T>A , CM000685.2:g.21978961T>A	GRCh38
NC_000023.10:g.21997079T>A , CM000685.1:g.21997079T>A	GRCh37
NC_000023.9:g.21907000T>A	NCBI36
NG_009228.1:g.43238T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404933.7:c.745T>A MANE Select	ENSP00000385746.2:p.Tyr249Asn
ENST00000379404.5:c.586T>A	ENSP00000368714.1:p.Tyr196Asn
ENST00000404933.6:c.745T>A	ENSP00000385746.2:p.Tyr249Asn
NM_001258423.1:c.586T>A	NP_001245352.1:p.Tyr196Asn
NM_004595.4:c.745T>A	NP_004586.2:p.Tyr249Asn
XM_005274582.1:c.643T>A	XP_005274639.1:p.Tyr215Asn
XM_011545568.1:c.643T>A	XP_011543870.1:p.Tyr215Asn
XM_005274582.2:c.643T>A	XP_005274639.1:p.Tyr215Asn
XM_011545568.2:c.643T>A	XP_011543870.1:p.Tyr215Asn
XM_017029753.2:c.745T>A	XP_016885242.1:p.Tyr249Asn
XM_017029754.1:c.643T>A	XP_016885243.1:p.Tyr215Asn
XM_017029755.1:c.643T>A	XP_016885244.1:p.Tyr215Asn
XM_024452427.1:c.643T>A	XP_024308195.1:p.Tyr215Asn
NM_004595.5:c.745T>A MANE Select	NP_004586.2:p.Tyr249Asn
NM_001258423.2:c.586T>A	NP_001245352.1:p.Tyr196Asn