Canonical Allele Identifier: CA412568994

Gene: SMS

Linked Data

• ClinVar Variation Id: 2500736
• ClinVar RCV Id: RCV003225648
• MyVariant Identifiers: chrX:g.21997008T>C (hg19) ; chrX:g.21978890T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21978890T>C , CM000685.2:g.21978890T>C	GRCh38
NC_000023.10:g.21997008T>C , CM000685.1:g.21997008T>C	GRCh37
NC_000023.9:g.21906929T>C	NCBI36
NG_009228.1:g.43167T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404933.7:c.674T>C MANE Select	ENSP00000385746.2:p.Val225Ala
ENST00000379404.5:c.515T>C	ENSP00000368714.1:p.Val172Ala
ENST00000404933.6:c.674T>C	ENSP00000385746.2:p.Val225Ala
NM_001258423.1:c.515T>C	NP_001245352.1:p.Val172Ala
NM_004595.4:c.674T>C	NP_004586.2:p.Val225Ala
XM_005274582.1:c.572T>C	XP_005274639.1:p.Val191Ala
XM_011545568.1:c.572T>C	XP_011543870.1:p.Val191Ala
XM_005274582.2:c.572T>C	XP_005274639.1:p.Val191Ala
XM_011545568.2:c.572T>C	XP_011543870.1:p.Val191Ala
XM_017029753.2:c.674T>C	XP_016885242.1:p.Val225Ala
XM_017029754.1:c.572T>C	XP_016885243.1:p.Val191Ala
XM_017029755.1:c.572T>C	XP_016885244.1:p.Val191Ala
XM_024452427.1:c.572T>C	XP_024308195.1:p.Val191Ala
NM_004595.5:c.674T>C MANE Select	NP_004586.2:p.Val225Ala
NM_001258423.2:c.515T>C	NP_001245352.1:p.Val172Ala