Canonical Allele Identifier: CA2666215448
Gene: HESX1 HGNC NCBI

Linked Data

gnomAD v4: 3-57198136-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.57198136A>G , CM000665.2:g.57198136A>G GRCh38
NC_000003.11:g.57232164A>G , CM000665.1:g.57232164A>G GRCh37
NC_000003.10:g.57207204A>G NCBI36
NG_008242.1:g.7117T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295934.8:c.*61T>C MANE Select ENSP00000295934.3:n.*61T>C
ENST00000647958.1:c.*61T>C ENSP00000498190.1:n.*61T>C
ENST00000295934.7:c.*61T>C ENSP00000295934.3:n.*61T>C
ENST00000473921.2:c.*61T>C ENSP00000418918.1:n.*61T>C
NM_003865.2:c.*61T>C NP_003856.1:n.*61T>C
XM_005265526.3:c.*61T>C XP_005265583.1:n.*61T>C
XM_006713379.2:c.*61T>C XP_006713442.1:n.*61T>C
XM_011534204.1:c.*61T>C XP_011532506.1:n.*61T>C
XM_011534205.1:c.*61T>C XP_011532507.1:n.*61T>C
XM_005265526.4:c.*61T>C XP_005265583.1:n.*61T>C
XM_011534204.2:c.*61T>C XP_011532506.1:n.*61T>C
XM_011534205.2:c.*61T>C XP_011532507.1:n.*61T>C
XM_017007421.1:c.*61T>C XP_016862910.1:n.*61T>C
XM_024453809.1:c.*61T>C XP_024309577.1:n.*61T>C
NM_003865.3:c.*61T>C MANE Select NP_003856.1:n.*61T>C
NM_001376058.1:c.*61T>C NP_001362987.1:n.*61T>C
NM_001376059.1:c.*61T>C NP_001362988.1:n.*61T>C
NM_001376060.1:c.*61T>C NP_001362989.1:n.*61T>C
NM_001376061.1:c.*61T>C NP_001362990.1:n.*61T>C
NR_164757.1:n.1112T>C