Canonical Allele Identifier: CA10367836

Gene: SMS

Linked Data

• dbSNP Id: rs750930835
• ExAC: X:21997030 C / T
• gnomAD v2: X-21997030-C-T
• gnomAD v3: X-21978912-C-T
• gnomAD v4: X-21978912-C-T
• MyVariant Identifiers: chrX:g.21997030C>T (hg19) ; chrX:g.21978912C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21978912C>T , CM000685.2:g.21978912C>T	GRCh38
NC_000023.10:g.21997030C>T , CM000685.1:g.21997030C>T	GRCh37
NC_000023.9:g.21906951C>T	NCBI36
NG_009228.1:g.43189C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404933.7:c.696C>T MANE Select	ENSP00000385746.2:p.Tyr232=
ENST00000379404.5:c.537C>T	ENSP00000368714.1:p.Tyr179=
ENST00000404933.6:c.696C>T	ENSP00000385746.2:p.Tyr232=
NM_001258423.1:c.537C>T	NP_001245352.1:p.Tyr179=
NM_004595.4:c.696C>T	NP_004586.2:p.Tyr232=
XM_005274582.1:c.594C>T	XP_005274639.1:p.Tyr198=
XM_011545568.1:c.594C>T	XP_011543870.1:p.Tyr198=
XM_005274582.2:c.594C>T	XP_005274639.1:p.Tyr198=
XM_011545568.2:c.594C>T	XP_011543870.1:p.Tyr198=
XM_017029753.2:c.696C>T	XP_016885242.1:p.Tyr232=
XM_017029754.1:c.594C>T	XP_016885243.1:p.Tyr198=
XM_017029755.1:c.594C>T	XP_016885244.1:p.Tyr198=
XM_024452427.1:c.594C>T	XP_024308195.1:p.Tyr198=
NM_004595.5:c.696C>T MANE Select	NP_004586.2:p.Tyr232=
NM_001258423.2:c.537C>T	NP_001245352.1:p.Tyr179=