Canonical Allele Identifier: CA70075243

Linked Data

dbSNP Id: rs902465385
gnomAD v2: 3-10331465-T-C
gnomAD v3: 3-10289781-T-C
gnomAD v4: 3-10289781-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10289781T>C , CM000665.2:g.10289781T>C GRCh38
NC_000003.11:g.10331465T>C , CM000665.1:g.10331465T>C GRCh37
NC_000003.10:g.10306465T>C NCBI36
NG_011560.1:g.8167A>G
NG_033090.1:g.13830T>C
NG_033090.2:g.13830T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000335542.13:c.206A>G (GHRL) MANE Select ENSP00000335074.8:p.Glu69Gly
ENST00000287656.11:c.203A>G (GHRL) ENSP00000287656.7:p.Glu68Gly
ENST00000335542.12:c.206A>G (GHRL) ENSP00000335074.8:p.Glu69Gly
ENST00000422159.5:c.206A>G (GHRL) ENSP00000405464.1:p.Glu69Gly
ENST00000429122.1:c.206A>G (GHRL) ENSP00000414819.1:p.Glu69Gly
ENST00000430179.5:c.203A>G (GHRL) ENSP00000399922.1:p.Glu68Gly
ENST00000437422.6:c.170A>G (GHRL) ENSP00000416768.2:p.Glu57Gly
ENST00000439975.6:c.73-2969A>G (GHRL) ENSP00000403725.2:n.73-2969A>G
ENST00000446937.2:c.72+3061A>G (GHRL) ENSP00000394923.2:n.72+3061A>G
ENST00000449238.6:c.167A>G (GHRL) ENSP00000388145.2:p.Glu56Gly
ENST00000457360.5:c.206A>G (GHRL) ENSP00000391406.1:p.Glu69Gly
ENST00000475759.5:n.27A>G (GHRL)
ENST00000476283.1:n.27A>G (GHRL)
ENST00000481287.5:n.383A>G (GHRL)
ENST00000491589.5:n.297A>G (GHRL)
NM_001134941.2:c.203A>G (GHRL) NP_001128413.1:p.Glu68Gly
NM_001134944.1:c.170A>G (GHRL) NP_001128416.1:p.Glu57Gly
NM_001134945.1:c.167A>G (GHRL) NP_001128417.1:p.Glu56Gly
NM_001134946.1:c.73-2969A>G (GHRL) NP_001128418.1:n.73-2969A>G
NM_001302821.1:c.206A>G (GHRL) NP_001289750.1:p.Glu69Gly
NM_001302822.1:c.206A>G (GHRL) NP_001289751.1:p.Glu69Gly
NM_001302823.1:c.203A>G (GHRL) NP_001289752.1:p.Glu68Gly
NM_001302824.1:c.206A>G (GHRL) NP_001289753.1:p.Glu69Gly
NM_001302825.1:c.206A>G (GHRL) NP_001289754.1:p.Glu69Gly
NM_016362.4:c.206A>G (GHRL) NP_057446.1:p.Glu69Gly
NR_004431.3:n.383+1679T>C (GHRLOS)
NR_024144.2:n.466+1679T>C (GHRLOS)
NR_024145.2:n.555+1679T>C (GHRLOS)
NR_073566.1:n.566+1675T>C (GHRLOS)
NR_073567.1:n.554+1679T>C (GHRLOS)
NR_073568.1:n.409+1679T>C (GHRLOS)
NR_126505.1:n.106+3061A>G (GHRL)
XM_017006612.2:c.206A>G (GHRL) XP_016862101.1:p.Glu69Gly
XM_017006613.2:c.203A>G (GHRL) XP_016862102.1:p.Glu68Gly
XM_024453594.1:c.206A>G (GHRL) XP_024309362.1:p.Glu69Gly
NM_001134941.3:c.203A>G (GHRL) NP_001128413.1:p.Glu68Gly
NM_001134944.2:c.170A>G (GHRL) NP_001128416.1:p.Glu57Gly
NM_001134945.2:c.167A>G (GHRL) NP_001128417.1:p.Glu56Gly
NM_001134946.2:c.73-2969A>G (GHRL) NP_001128418.1:n.73-2969A>G
NM_001302821.2:c.206A>G (GHRL) NP_001289750.1:p.Glu69Gly
NM_001302822.2:c.206A>G (GHRL) NP_001289751.1:p.Glu69Gly
NM_001302823.2:c.203A>G (GHRL) NP_001289752.1:p.Glu68Gly
NM_001302824.2:c.206A>G (GHRL) NP_001289753.1:p.Glu69Gly
NM_001302825.2:c.206A>G (GHRL) NP_001289754.1:p.Glu69Gly
NM_016362.5:c.206A>G (GHRL) MANE Select NP_057446.1:p.Glu69Gly
NR_126505.2:n.106+3061A>G (GHRL)