Canonical Allele Identifier: CA2612220819

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390417-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390417T>C , CM000673.2:g.6390417T>C	GRCh38
NC_000011.9:g.6411647T>C , CM000673.1:g.6411647T>C	GRCh37
NC_000011.8:g.6368223T>C	NCBI36
NG_011780.1:g.4993T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.4:c.-182T>C	NP_000534.3:n.-182T>C
NM_001007593.2:c.-182T>C	NP_001007594.2:n.-182T>C
XM_005253075.3:c.-182T>C	XP_005253132.1:n.-182T>C
XM_011520303.1:c.-182T>C	XP_011518605.1:n.-182T>C
XM_011520304.1:c.-182T>C	XP_011518606.1:n.-182T>C
XR_930886.1:n.117T>C
NM_001318087.1:c.-182T>C	NP_001305016.1:n.-182T>C
NM_001318088.1:c.-1143T>C	NP_001305017.1:n.-1143T>C
NR_027400.2:n.4T>C
NR_134502.1:n.4T>C