Canonical Allele Identifier: CA11436571
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10290681T>G , CM000665.2:g.10290681T>G GRCh38
NC_000003.11:g.10332365T>G , CM000665.1:g.10332365T>G GRCh37
NC_000003.10:g.10307365T>G NCBI36
NG_011560.1:g.7267A>C
NG_033090.1:g.14730T>G
NG_033090.2:g.14730T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000335542.13:c.-30+35A>C (GHRL) MANE Select ENSP00000335074.8:n.-30+35A>C
ENST00000287656.11:c.-30+35A>C (GHRL) ENSP00000287656.7:n.-30+35A>C
ENST00000335542.12:c.-30+35A>C (GHRL) ENSP00000335074.8:n.-30+35A>C
ENST00000425479.1:c.-29-472A>C (GHRL) ENSP00000405031.1:n.-29-472A>C
ENST00000429122.1:c.-30+35A>C (GHRL) ENSP00000414819.1:n.-30+35A>C
ENST00000430179.5:c.-30+35A>C (GHRL) ENSP00000399922.1:n.-30+35A>C
ENST00000437422.6:c.73-803A>C (GHRL) ENSP00000416768.2:n.73-803A>C
ENST00000439975.6:c.72+2161A>C (GHRL) ENSP00000403725.2:n.72+2161A>C
ENST00000446937.2:c.72+2161A>C (GHRL) ENSP00000394923.2:n.72+2161A>C
ENST00000449238.6:c.73-806A>C (GHRL) ENSP00000388145.2:n.73-806A>C
ENST00000457360.5:c.-30+35A>C (GHRL) ENSP00000391406.1:n.-30+35A>C
ENST00000491589.5:n.199+35A>C (GHRL)
NM_001134941.2:c.-30+35A>C (GHRL) NP_001128413.1:n.-30+35A>C
NM_001134944.1:c.73-803A>C (GHRL) NP_001128416.1:n.73-803A>C
NM_001134945.1:c.73-806A>C (GHRL) NP_001128417.1:n.73-806A>C
NM_001134946.1:c.72+2161A>C (GHRL) NP_001128418.1:n.72+2161A>C
NM_001302821.1:c.-30+35A>C (GHRL) NP_001289750.1:n.-30+35A>C
NM_001302822.1:c.-30+35A>C (GHRL) NP_001289751.1:n.-30+35A>C
NM_001302823.1:c.-30+35A>C (GHRL) NP_001289752.1:n.-30+35A>C
NM_001302824.1:c.-30+35A>C (GHRL) NP_001289753.1:n.-30+35A>C
NM_001302825.1:c.-29-472A>C (GHRL) NP_001289754.1:n.-29-472A>C
NM_016362.4:c.-30+35A>C (GHRL) NP_057446.1:n.-30+35A>C
NR_004431.3:n.384-1387T>G (GHRLOS)
NR_024144.2:n.467-1642T>G (GHRLOS)
NR_024145.2:n.556-1387T>G (GHRLOS)
NR_073566.1:n.567-1387T>G (GHRLOS)
NR_073567.1:n.555-1387T>G (GHRLOS)
NR_073568.1:n.410-1387T>G (GHRLOS)
NR_126505.1:n.106+2161A>C (GHRL)
XM_017006612.2:c.-30+35A>C (GHRL) XP_016862101.1:n.-30+35A>C
XM_017006613.2:c.-30+35A>C (GHRL) XP_016862102.1:n.-30+35A>C
XM_024453594.1:c.-30+35A>C (GHRL) XP_024309362.1:n.-30+35A>C
NM_001134941.3:c.-30+35A>C (GHRL) NP_001128413.1:n.-30+35A>C
NM_001134944.2:c.73-803A>C (GHRL) NP_001128416.1:n.73-803A>C
NM_001134945.2:c.73-806A>C (GHRL) NP_001128417.1:n.73-806A>C
NM_001134946.2:c.72+2161A>C (GHRL) NP_001128418.1:n.72+2161A>C
NM_001302821.2:c.-30+35A>C (GHRL) NP_001289750.1:n.-30+35A>C
NM_001302822.2:c.-30+35A>C (GHRL) NP_001289751.1:n.-30+35A>C
NM_001302823.2:c.-30+35A>C (GHRL) NP_001289752.1:n.-30+35A>C
NM_001302824.2:c.-30+35A>C (GHRL) NP_001289753.1:n.-30+35A>C
NM_001302825.2:c.-29-472A>C (GHRL) NP_001289754.1:n.-29-472A>C
NM_016362.5:c.-30+35A>C (GHRL) MANE Select NP_057446.1:n.-30+35A>C
NR_126505.2:n.106+2161A>C (GHRL)