Canonical Allele Identifier: CA2664412767

Linked Data

gnomAD v4: 3-10289682-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10289682G>C , CM000665.2:g.10289682G>C GRCh38
NC_000003.11:g.10331366G>C , CM000665.1:g.10331366G>C GRCh37
NC_000003.10:g.10306366G>C NCBI36
NG_011560.1:g.8266C>G
NG_033090.1:g.13731G>C
NG_033090.2:g.13731G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000335542.13:c.225+80C>G (GHRL) MANE Select ENSP00000335074.8:n.225+80C>G
ENST00000287656.11:c.222+80C>G (GHRL) ENSP00000287656.7:n.222+80C>G
ENST00000335542.12:c.225+80C>G (GHRL) ENSP00000335074.8:n.225+80C>G
ENST00000422159.5:c.225+80C>G (GHRL) ENSP00000405464.1:n.225+80C>G
ENST00000429122.1:c.225+80C>G (GHRL) ENSP00000414819.1:n.225+80C>G
ENST00000430179.5:c.222+80C>G (GHRL) ENSP00000399922.1:n.222+80C>G
ENST00000437422.6:c.189+80C>G (GHRL) ENSP00000416768.2:n.189+80C>G
ENST00000439975.6:c.73-2870C>G (GHRL) ENSP00000403725.2:n.73-2870C>G
ENST00000446937.2:c.72+3160C>G (GHRL) ENSP00000394923.2:n.72+3160C>G
ENST00000449238.6:c.186+80C>G (GHRL) ENSP00000388145.2:n.186+80C>G
ENST00000457360.5:c.225+80C>G (GHRL) ENSP00000391406.1:n.225+80C>G
ENST00000475759.5:n.46+80C>G (GHRL)
ENST00000476283.1:n.46+80C>G (GHRL)
ENST00000481287.5:n.402+80C>G (GHRL)
ENST00000491589.5:n.316+80C>G (GHRL)
NM_001134941.2:c.222+80C>G (GHRL) NP_001128413.1:n.222+80C>G
NM_001134944.1:c.189+80C>G (GHRL) NP_001128416.1:n.189+80C>G
NM_001134945.1:c.186+80C>G (GHRL) NP_001128417.1:n.186+80C>G
NM_001134946.1:c.73-2870C>G (GHRL) NP_001128418.1:n.73-2870C>G
NM_001302821.1:c.225+80C>G (GHRL) NP_001289750.1:n.225+80C>G
NM_001302822.1:c.225+80C>G (GHRL) NP_001289751.1:n.225+80C>G
NM_001302823.1:c.222+80C>G (GHRL) NP_001289752.1:n.222+80C>G
NM_001302824.1:c.225+80C>G (GHRL) NP_001289753.1:n.225+80C>G
NM_001302825.1:c.225+80C>G (GHRL) NP_001289754.1:n.225+80C>G
NM_016362.4:c.225+80C>G (GHRL) NP_057446.1:n.225+80C>G
NR_004431.3:n.383+1580G>C (GHRLOS)
NR_024144.2:n.466+1580G>C (GHRLOS)
NR_024145.2:n.555+1580G>C (GHRLOS)
NR_073566.1:n.566+1576G>C (GHRLOS)
NR_073567.1:n.554+1580G>C (GHRLOS)
NR_073568.1:n.409+1580G>C (GHRLOS)
NR_126505.1:n.106+3160C>G (GHRL)
XM_017006612.2:c.225+80C>G (GHRL) XP_016862101.1:n.225+80C>G
XM_017006613.2:c.222+80C>G (GHRL) XP_016862102.1:n.222+80C>G
XM_024453594.1:c.225+80C>G (GHRL) XP_024309362.1:n.225+80C>G
NM_001134941.3:c.222+80C>G (GHRL) NP_001128413.1:n.222+80C>G
NM_001134944.2:c.189+80C>G (GHRL) NP_001128416.1:n.189+80C>G
NM_001134945.2:c.186+80C>G (GHRL) NP_001128417.1:n.186+80C>G
NM_001134946.2:c.73-2870C>G (GHRL) NP_001128418.1:n.73-2870C>G
NM_001302821.2:c.225+80C>G (GHRL) NP_001289750.1:n.225+80C>G
NM_001302822.2:c.225+80C>G (GHRL) NP_001289751.1:n.225+80C>G
NM_001302823.2:c.222+80C>G (GHRL) NP_001289752.1:n.222+80C>G
NM_001302824.2:c.225+80C>G (GHRL) NP_001289753.1:n.225+80C>G
NM_001302825.2:c.225+80C>G (GHRL) NP_001289754.1:n.225+80C>G
NM_016362.5:c.225+80C>G (GHRL) MANE Select NP_057446.1:n.225+80C>G
NR_126505.2:n.106+3160C>G (GHRL)