Canonical Allele Identifier: CA10608368
Gene: OR10Z1 HGNC NCBI
SPTA1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158611196G>C
GRCh37 chr1:g.158580986G>C
gnomAD v2:
1:158580986 G / C
gnomAD v3:
1:158611196 G / C
gnomAD v4:
chr1-158611196-G-C
Joint Max Group AF 0.00239148 (EAS)
Genomes Max Group AF 0.00276168 (EAS)
Exomes Max Group AF 0.0022039 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158611196G>C , CM000663.2:g.158611196G>C GRCh38
NC_000001.10:g.158580986G>C , CM000663.1:g.158580986G>C GRCh37
NC_000001.9:g.156847610G>C NCBI36
NG_011474.1:g.80521C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000641002.1:c.*3816G>C (OR10Z1) MANE Select ENSP00000493003.1:n.*3816G>C
ENST00000643759.2:c.*68C>G (SPTA1) MANE Select ENSP00000495214.1:n.*68C>G
ENST00000368147.8:c.*68C>G (SPTA1) ENSP00000357129.4:n.*68C>G
ENST00000614909.4:c.*34C>G (SPTA1) ENSP00000482595.1:n.*34C>G
NM_003126.2:c.*68C>G (SPTA1) NP_003117.2:n.*68C>G
XM_011509916.1:c.*68C>G (SPTA1) XP_011508218.1:n.*68C>G
XM_011509917.1:c.*68C>G (SPTA1) XP_011508219.1:n.*68C>G
NM_003126.3:c.*68C>G (SPTA1) NP_003117.2:n.*68C>G
XM_011509916.2:c.*68C>G (SPTA1) XP_011508218.1:n.*68C>G
XM_011509917.3:c.*68C>G (SPTA1) XP_011508219.1:n.*68C>G
NM_003126.4:c.*68C>G (SPTA1) MANE Select NP_003117.2:n.*68C>G
NM_001004478.2:c.*3816G>C (OR10Z1) MANE Select NP_001004478.1:n.*3816G>C
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