Canonical Allele Identifier: CA351779101

Gene: GHRL GHRLOS

Linked Data

• gnomAD v4: 3-10289869-C-G
• MyVariant Identifiers: chr3:g.10331553C>G (hg19) ; chr3:g.10289869C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10289869C>G , CM000665.2:g.10289869C>G	GRCh38
NC_000003.11:g.10331553C>G , CM000665.1:g.10331553C>G	GRCh37
NC_000003.10:g.10306553C>G	NCBI36
NG_011560.1:g.8079G>C
NG_033090.1:g.13918C>G
NG_033090.2:g.13918C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335542.13:c.118G>C (GHRL) MANE Select	ENSP00000335074.8:p.Glu40Gln
ENST00000287656.11:c.115G>C (GHRL)	ENSP00000287656.7:p.Glu39Gln
ENST00000335542.12:c.118G>C (GHRL)	ENSP00000335074.8:p.Glu40Gln
ENST00000422159.5:c.118G>C (GHRL)	ENSP00000405464.1:p.Glu40Gln
ENST00000429122.1:c.118G>C (GHRL)	ENSP00000414819.1:p.Glu40Gln
ENST00000430179.5:c.115G>C (GHRL)	ENSP00000399922.1:p.Glu39Gln
ENST00000437422.6:c.82G>C (GHRL)	ENSP00000416768.2:p.Glu28Gln
ENST00000439975.6:c.72+2973G>C (GHRL)	ENSP00000403725.2:n.72+2973G>C
ENST00000446937.2:c.72+2973G>C (GHRL)	ENSP00000394923.2:n.72+2973G>C
ENST00000449238.6:c.79G>C (GHRL)	ENSP00000388145.2:p.Glu27Gln
ENST00000457360.5:c.118G>C (GHRL)	ENSP00000391406.1:p.Glu40Gln
ENST00000481287.5:n.295G>C (GHRL)
ENST00000491589.5:n.209G>C (GHRL)
NM_001134941.2:c.115G>C (GHRL)	NP_001128413.1:p.Glu39Gln
NM_001134944.1:c.82G>C (GHRL)	NP_001128416.1:p.Glu28Gln
NM_001134945.1:c.79G>C (GHRL)	NP_001128417.1:p.Glu27Gln
NM_001134946.1:c.72+2973G>C (GHRL)	NP_001128418.1:n.72+2973G>C
NM_001302821.1:c.118G>C (GHRL)	NP_001289750.1:p.Glu40Gln
NM_001302822.1:c.118G>C (GHRL)	NP_001289751.1:p.Glu40Gln
NM_001302823.1:c.115G>C (GHRL)	NP_001289752.1:p.Glu39Gln
NM_001302824.1:c.118G>C (GHRL)	NP_001289753.1:p.Glu40Gln
NM_001302825.1:c.118G>C (GHRL)	NP_001289754.1:p.Glu40Gln
NM_016362.4:c.118G>C (GHRL)	NP_057446.1:p.Glu40Gln
NR_004431.3:n.383+1767C>G (GHRLOS)
NR_024144.2:n.466+1767C>G (GHRLOS)
NR_024145.2:n.555+1767C>G (GHRLOS)
NR_073566.1:n.566+1763C>G (GHRLOS)
NR_073567.1:n.554+1767C>G (GHRLOS)
NR_073568.1:n.409+1767C>G (GHRLOS)
NR_126505.1:n.106+2973G>C (GHRL)
XM_017006612.2:c.118G>C (GHRL)	XP_016862101.1:p.Glu40Gln
XM_017006613.2:c.115G>C (GHRL)	XP_016862102.1:p.Glu39Gln
XM_024453594.1:c.118G>C (GHRL)	XP_024309362.1:p.Glu40Gln
NM_001134941.3:c.115G>C (GHRL)	NP_001128413.1:p.Glu39Gln
NM_001134944.2:c.82G>C (GHRL)	NP_001128416.1:p.Glu28Gln
NM_001134945.2:c.79G>C (GHRL)	NP_001128417.1:p.Glu27Gln
NM_001134946.2:c.72+2973G>C (GHRL)	NP_001128418.1:n.72+2973G>C
NM_001302821.2:c.118G>C (GHRL)	NP_001289750.1:p.Glu40Gln
NM_001302822.2:c.118G>C (GHRL)	NP_001289751.1:p.Glu40Gln
NM_001302823.2:c.115G>C (GHRL)	NP_001289752.1:p.Glu39Gln
NM_001302824.2:c.118G>C (GHRL)	NP_001289753.1:p.Glu40Gln
NM_001302825.2:c.118G>C (GHRL)	NP_001289754.1:p.Glu40Gln
NM_016362.5:c.118G>C (GHRL) MANE Select	NP_057446.1:p.Glu40Gln
NR_126505.2:n.106+2973G>C (GHRL)