Canonical Allele Identifier: CA2666215457
Gene: HESX1 HGNC NCBI

Linked Data

gnomAD v4: 3-57198153-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.57198153A>C , CM000665.2:g.57198153A>C GRCh38
NC_000003.11:g.57232181A>C , CM000665.1:g.57232181A>C GRCh37
NC_000003.10:g.57207221A>C NCBI36
NG_008242.1:g.7100T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295934.8:c.*44T>G MANE Select ENSP00000295934.3:n.*44T>G
ENST00000647958.1:c.*44T>G ENSP00000498190.1:n.*44T>G
ENST00000295934.7:c.*44T>G ENSP00000295934.3:n.*44T>G
ENST00000473921.2:c.*44T>G ENSP00000418918.1:n.*44T>G
NM_003865.2:c.*44T>G NP_003856.1:n.*44T>G
XM_005265526.3:c.*44T>G XP_005265583.1:n.*44T>G
XM_006713379.2:c.*44T>G XP_006713442.1:n.*44T>G
XM_011534204.1:c.*44T>G XP_011532506.1:n.*44T>G
XM_011534205.1:c.*44T>G XP_011532507.1:n.*44T>G
XM_005265526.4:c.*44T>G XP_005265583.1:n.*44T>G
XM_011534204.2:c.*44T>G XP_011532506.1:n.*44T>G
XM_011534205.2:c.*44T>G XP_011532507.1:n.*44T>G
XM_017007421.1:c.*44T>G XP_016862910.1:n.*44T>G
XM_024453809.1:c.*44T>G XP_024309577.1:n.*44T>G
NM_003865.3:c.*44T>G MANE Select NP_003856.1:n.*44T>G
NM_001376058.1:c.*44T>G NP_001362987.1:n.*44T>G
NM_001376059.1:c.*44T>G NP_001362988.1:n.*44T>G
NM_001376060.1:c.*44T>G NP_001362989.1:n.*44T>G
NM_001376061.1:c.*44T>G NP_001362990.1:n.*44T>G
NR_164757.1:n.1095T>G