Canonical Allele Identifier: CA343009966
Community Standard Title: NM_001004478.2(OR10Z1):c.*3906G>C
Gene: OR10Z1 HGNC NCBI
SPTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158611286G>C , CM000663.2:g.158611286G>C GRCh38
NC_000001.10:g.158581076G>C , CM000663.1:g.158581076G>C GRCh37
NC_000001.9:g.156847700G>C NCBI36
NG_011474.1:g.80431C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001004478.2:c.*3906G>C (OR10Z1) MANE Select NP_001004478.1:n.*3906G>C
NM_003126.4:c.7238C>G (SPTA1) MANE Select NP_003117.2:p.Thr2413Ser
ENST00000641002.1:c.*3906G>C (OR10Z1) MANE Select ENSP00000493003.1:n.*3906G>C
ENST00000643759.2:c.7238C>G (SPTA1) MANE Select ENSP00000495214.1:p.Thr2413Ser
NM_003126.2:c.7238C>G (SPTA1) NP_003117.2:p.Thr2413Ser
NM_003126.3:c.7238C>G (SPTA1) NP_003117.2:p.Thr2413Ser
ENST00000368147.8:c.7238C>G (SPTA1) ENSP00000357129.4:p.Thr2413Ser
ENST00000485680.1:n.344C>G (SPTA1)
ENST00000614909.4:c.7237C>G (SPTA1) ENSP00000482595.1:p.Pro2413Ala
XM_011509916.1:c.7238C>G (SPTA1) XP_011508218.1:p.Thr2413Ser
XM_011509916.2:c.7238C>G (SPTA1) XP_011508218.1:p.Thr2413Ser
XM_011509917.1:c.7220C>G (SPTA1) XP_011508219.1:p.Thr2407Ser
XM_011509917.3:c.7220C>G (SPTA1) XP_011508219.1:p.Thr2407Ser