Canonical Allele Identifier: CA2693299879

Gene: SMS

Linked Data

• gnomAD v4: X-21978975-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21978975T>G , CM000685.2:g.21978975T>G	GRCh38
NC_000023.10:g.21997093T>G , CM000685.1:g.21997093T>G	GRCh37
NC_000023.9:g.21907014T>G	NCBI36
NG_009228.1:g.43252T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404933.7:c.750+9T>G MANE Select	ENSP00000385746.2:n.750+9T>G
ENST00000379404.5:c.591+9T>G	ENSP00000368714.1:n.591+9T>G
ENST00000404933.6:c.750+9T>G	ENSP00000385746.2:n.750+9T>G
NM_001258423.1:c.591+9T>G	NP_001245352.1:n.591+9T>G
NM_004595.4:c.750+9T>G	NP_004586.2:n.750+9T>G
XM_005274582.1:c.648+9T>G	XP_005274639.1:n.648+9T>G
XM_011545568.1:c.648+9T>G	XP_011543870.1:n.648+9T>G
XM_005274582.2:c.648+9T>G	XP_005274639.1:n.648+9T>G
XM_011545568.2:c.648+9T>G	XP_011543870.1:n.648+9T>G
XM_017029753.2:c.750+9T>G	XP_016885242.1:n.750+9T>G
XM_017029754.1:c.648+9T>G	XP_016885243.1:n.648+9T>G
XM_017029755.1:c.648+9T>G	XP_016885244.1:n.648+9T>G
XM_024452427.1:c.648+9T>G	XP_024308195.1:n.648+9T>G
NM_004595.5:c.750+9T>G MANE Select	NP_004586.2:n.750+9T>G
NM_001258423.2:c.591+9T>G	NP_001245352.1:n.591+9T>G