Canonical Allele Identifier: CA412569165

Gene: SMS

Linked Data

• gnomAD v4: X-21978963-T-A
• MyVariant Identifiers: chrX:g.21997081T>A (hg19) ; chrX:g.21978963T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21978963T>A , CM000685.2:g.21978963T>A	GRCh38
NC_000023.10:g.21997081T>A , CM000685.1:g.21997081T>A	GRCh37
NC_000023.9:g.21907002T>A	NCBI36
NG_009228.1:g.43240T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404933.7:c.747T>A MANE Select	ENSP00000385746.2:p.Tyr249Ter
ENST00000379404.5:c.588T>A	ENSP00000368714.1:p.Tyr196Ter
ENST00000404933.6:c.747T>A	ENSP00000385746.2:p.Tyr249Ter
NM_001258423.1:c.588T>A	NP_001245352.1:p.Tyr196Ter
NM_004595.4:c.747T>A	NP_004586.2:p.Tyr249Ter
XM_005274582.1:c.645T>A	XP_005274639.1:p.Tyr215Ter
XM_011545568.1:c.645T>A	XP_011543870.1:p.Tyr215Ter
XM_005274582.2:c.645T>A	XP_005274639.1:p.Tyr215Ter
XM_011545568.2:c.645T>A	XP_011543870.1:p.Tyr215Ter
XM_017029753.2:c.747T>A	XP_016885242.1:p.Tyr249Ter
XM_017029754.1:c.645T>A	XP_016885243.1:p.Tyr215Ter
XM_017029755.1:c.645T>A	XP_016885244.1:p.Tyr215Ter
XM_024452427.1:c.645T>A	XP_024308195.1:p.Tyr215Ter
NM_004595.5:c.747T>A MANE Select	NP_004586.2:p.Tyr249Ter
NM_001258423.2:c.588T>A	NP_001245352.1:p.Tyr196Ter