Canonical Allele Identifier: CA351779086

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10289862T>A , CM000665.2:g.10289862T>A GRCh38
NC_000003.11:g.10331546T>A , CM000665.1:g.10331546T>A GRCh37
NC_000003.10:g.10306546T>A NCBI36
NG_011560.1:g.8086A>T
NG_033090.1:g.13911T>A
NG_033090.2:g.13911T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000335542.13:c.125A>T (GHRL) MANE Select ENSP00000335074.8:p.Lys42Met
ENST00000287656.11:c.122A>T (GHRL) ENSP00000287656.7:p.Lys41Met
ENST00000335542.12:c.125A>T (GHRL) ENSP00000335074.8:p.Lys42Met
ENST00000422159.5:c.125A>T (GHRL) ENSP00000405464.1:p.Lys42Met
ENST00000429122.1:c.125A>T (GHRL) ENSP00000414819.1:p.Lys42Met
ENST00000430179.5:c.122A>T (GHRL) ENSP00000399922.1:p.Lys41Met
ENST00000437422.6:c.89A>T (GHRL) ENSP00000416768.2:p.Lys30Met
ENST00000439975.6:c.72+2980A>T (GHRL) ENSP00000403725.2:n.72+2980A>T
ENST00000446937.2:c.72+2980A>T (GHRL) ENSP00000394923.2:n.72+2980A>T
ENST00000449238.6:c.86A>T (GHRL) ENSP00000388145.2:p.Lys29Met
ENST00000457360.5:c.125A>T (GHRL) ENSP00000391406.1:p.Lys42Met
ENST00000481287.5:n.302A>T (GHRL)
ENST00000491589.5:n.216A>T (GHRL)
NM_001134941.2:c.122A>T (GHRL) NP_001128413.1:p.Lys41Met
NM_001134944.1:c.89A>T (GHRL) NP_001128416.1:p.Lys30Met
NM_001134945.1:c.86A>T (GHRL) NP_001128417.1:p.Lys29Met
NM_001134946.1:c.72+2980A>T (GHRL) NP_001128418.1:n.72+2980A>T
NM_001302821.1:c.125A>T (GHRL) NP_001289750.1:p.Lys42Met
NM_001302822.1:c.125A>T (GHRL) NP_001289751.1:p.Lys42Met
NM_001302823.1:c.122A>T (GHRL) NP_001289752.1:p.Lys41Met
NM_001302824.1:c.125A>T (GHRL) NP_001289753.1:p.Lys42Met
NM_001302825.1:c.125A>T (GHRL) NP_001289754.1:p.Lys42Met
NM_016362.4:c.125A>T (GHRL) NP_057446.1:p.Lys42Met
NR_004431.3:n.383+1760T>A (GHRLOS)
NR_024144.2:n.466+1760T>A (GHRLOS)
NR_024145.2:n.555+1760T>A (GHRLOS)
NR_073566.1:n.566+1756T>A (GHRLOS)
NR_073567.1:n.554+1760T>A (GHRLOS)
NR_073568.1:n.409+1760T>A (GHRLOS)
NR_126505.1:n.106+2980A>T (GHRL)
XM_017006612.2:c.125A>T (GHRL) XP_016862101.1:p.Lys42Met
XM_017006613.2:c.122A>T (GHRL) XP_016862102.1:p.Lys41Met
XM_024453594.1:c.125A>T (GHRL) XP_024309362.1:p.Lys42Met
NM_001134941.3:c.122A>T (GHRL) NP_001128413.1:p.Lys41Met
NM_001134944.2:c.89A>T (GHRL) NP_001128416.1:p.Lys30Met
NM_001134945.2:c.86A>T (GHRL) NP_001128417.1:p.Lys29Met
NM_001134946.2:c.72+2980A>T (GHRL) NP_001128418.1:n.72+2980A>T
NM_001302821.2:c.125A>T (GHRL) NP_001289750.1:p.Lys42Met
NM_001302822.2:c.125A>T (GHRL) NP_001289751.1:p.Lys42Met
NM_001302823.2:c.122A>T (GHRL) NP_001289752.1:p.Lys41Met
NM_001302824.2:c.125A>T (GHRL) NP_001289753.1:p.Lys42Met
NM_001302825.2:c.125A>T (GHRL) NP_001289754.1:p.Lys42Met
NM_016362.5:c.125A>T (GHRL) MANE Select NP_057446.1:p.Lys42Met
NR_126505.2:n.106+2980A>T (GHRL)