Canonical Allele Identifier: CA2612220822

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390419-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390419T>C , CM000673.2:g.6390419T>C	GRCh38
NC_000011.9:g.6411649T>C , CM000673.1:g.6411649T>C	GRCh37
NC_000011.8:g.6368225T>C	NCBI36
NG_011780.1:g.4995T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.4:c.-180T>C	NP_000534.3:n.-180T>C
NM_001007593.2:c.-180T>C	NP_001007594.2:n.-180T>C
XM_005253075.3:c.-180T>C	XP_005253132.1:n.-180T>C
XM_011520303.1:c.-180T>C	XP_011518605.1:n.-180T>C
XM_011520304.1:c.-180T>C	XP_011518606.1:n.-180T>C
XR_930886.1:n.119T>C
NM_001318087.1:c.-180T>C	NP_001305016.1:n.-180T>C
NM_001318088.1:c.-1141T>C	NP_001305017.1:n.-1141T>C
NR_027400.2:n.6T>C
NR_134502.1:n.6T>C