Canonical Allele Identifier: CA1181687
Gene: OR10Z1 HGNC NCBI
SPTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158611341A>G , CM000663.2:g.158611341A>G GRCh38
NC_000001.10:g.158581131A>G , CM000663.1:g.158581131A>G GRCh37
NC_000001.9:g.156847755A>G NCBI36
NG_011474.1:g.80376T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000641002.1:c.*3961A>G (OR10Z1) MANE Select ENSP00000493003.1:n.*3961A>G
ENST00000643759.2:c.7183T>C (SPTA1) MANE Select ENSP00000495214.1:p.Tyr2395His
ENST00000368147.8:c.7183T>C (SPTA1) ENSP00000357129.4:p.Tyr2395His
ENST00000485680.1:n.289T>C (SPTA1)
ENST00000614909.4:c.7183T>C (SPTA1) ENSP00000482595.1:p.Tyr2395His
NM_003126.2:c.7183T>C (SPTA1) NP_003117.2:p.Tyr2395His
XM_011509916.1:c.7183T>C (SPTA1) XP_011508218.1:p.Tyr2395His
XM_011509917.1:c.7165T>C (SPTA1) XP_011508219.1:p.Tyr2389His
NM_003126.3:c.7183T>C (SPTA1) NP_003117.2:p.Tyr2395His
XM_011509916.2:c.7183T>C (SPTA1) XP_011508218.1:p.Tyr2395His
XM_011509917.3:c.7165T>C (SPTA1) XP_011508219.1:p.Tyr2389His
NM_003126.4:c.7183T>C (SPTA1) MANE Select NP_003117.2:p.Tyr2395His
NM_001004478.2:c.*3961A>G (OR10Z1) MANE Select NP_001004478.1:n.*3961A>G