Canonical Allele Identifier: CA351778996

Gene: GHRL GHRLOS

Linked Data

• dbSNP Id: rs1296142392
• gnomAD v3: 3-10289815-G-A
• gnomAD v4: 3-10289815-G-A
• MyVariant Identifiers: chr3:g.10331499G>A (hg19) ; chr3:g.10289815G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10289815G>A , CM000665.2:g.10289815G>A	GRCh38
NC_000003.11:g.10331499G>A , CM000665.1:g.10331499G>A	GRCh37
NC_000003.10:g.10306499G>A	NCBI36
NG_011560.1:g.8133C>T
NG_033090.1:g.13864G>A
NG_033090.2:g.13864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335542.13:c.172C>T (GHRL) MANE Select	ENSP00000335074.8:p.Arg58Cys
ENST00000287656.11:c.169C>T (GHRL)	ENSP00000287656.7:p.Arg57Cys
ENST00000335542.12:c.172C>T (GHRL)	ENSP00000335074.8:p.Arg58Cys
ENST00000422159.5:c.172C>T (GHRL)	ENSP00000405464.1:p.Arg58Cys
ENST00000429122.1:c.172C>T (GHRL)	ENSP00000414819.1:p.Arg58Cys
ENST00000430179.5:c.169C>T (GHRL)	ENSP00000399922.1:p.Arg57Cys
ENST00000437422.6:c.136C>T (GHRL)	ENSP00000416768.2:p.Arg46Cys
ENST00000439975.6:c.73-3003C>T (GHRL)	ENSP00000403725.2:n.73-3003C>T
ENST00000446937.2:c.72+3027C>T (GHRL)	ENSP00000394923.2:n.72+3027C>T
ENST00000449238.6:c.133C>T (GHRL)	ENSP00000388145.2:p.Arg45Cys
ENST00000457360.5:c.172C>T (GHRL)	ENSP00000391406.1:p.Arg58Cys
ENST00000481287.5:n.349C>T (GHRL)
ENST00000491589.5:n.263C>T (GHRL)
NM_001134941.2:c.169C>T (GHRL)	NP_001128413.1:p.Arg57Cys
NM_001134944.1:c.136C>T (GHRL)	NP_001128416.1:p.Arg46Cys
NM_001134945.1:c.133C>T (GHRL)	NP_001128417.1:p.Arg45Cys
NM_001134946.1:c.73-3003C>T (GHRL)	NP_001128418.1:n.73-3003C>T
NM_001302821.1:c.172C>T (GHRL)	NP_001289750.1:p.Arg58Cys
NM_001302822.1:c.172C>T (GHRL)	NP_001289751.1:p.Arg58Cys
NM_001302823.1:c.169C>T (GHRL)	NP_001289752.1:p.Arg57Cys
NM_001302824.1:c.172C>T (GHRL)	NP_001289753.1:p.Arg58Cys
NM_001302825.1:c.172C>T (GHRL)	NP_001289754.1:p.Arg58Cys
NM_016362.4:c.172C>T (GHRL)	NP_057446.1:p.Arg58Cys
NR_004431.3:n.383+1713G>A (GHRLOS)
NR_024144.2:n.466+1713G>A (GHRLOS)
NR_024145.2:n.555+1713G>A (GHRLOS)
NR_073566.1:n.566+1709G>A (GHRLOS)
NR_073567.1:n.554+1713G>A (GHRLOS)
NR_073568.1:n.409+1713G>A (GHRLOS)
NR_126505.1:n.106+3027C>T (GHRL)
XM_017006612.2:c.172C>T (GHRL)	XP_016862101.1:p.Arg58Cys
XM_017006613.2:c.169C>T (GHRL)	XP_016862102.1:p.Arg57Cys
XM_024453594.1:c.172C>T (GHRL)	XP_024309362.1:p.Arg58Cys
NM_001134941.3:c.169C>T (GHRL)	NP_001128413.1:p.Arg57Cys
NM_001134944.2:c.136C>T (GHRL)	NP_001128416.1:p.Arg46Cys
NM_001134945.2:c.133C>T (GHRL)	NP_001128417.1:p.Arg45Cys
NM_001134946.2:c.73-3003C>T (GHRL)	NP_001128418.1:n.73-3003C>T
NM_001302821.2:c.172C>T (GHRL)	NP_001289750.1:p.Arg58Cys
NM_001302822.2:c.172C>T (GHRL)	NP_001289751.1:p.Arg58Cys
NM_001302823.2:c.169C>T (GHRL)	NP_001289752.1:p.Arg57Cys
NM_001302824.2:c.172C>T (GHRL)	NP_001289753.1:p.Arg58Cys
NM_001302825.2:c.172C>T (GHRL)	NP_001289754.1:p.Arg58Cys
NM_016362.5:c.172C>T (GHRL) MANE Select	NP_057446.1:p.Arg58Cys
NR_126505.2:n.106+3027C>T (GHRL)