Canonical Allele Identifier: CA2252366

Linked Data

dbSNP Id: rs774906899
gnomAD v2: 3-10331471-C-T
gnomAD v4: 3-10289787-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10289787C>T , CM000665.2:g.10289787C>T GRCh38
NC_000003.11:g.10331471C>T , CM000665.1:g.10331471C>T GRCh37
NC_000003.10:g.10306471C>T NCBI36
NG_011560.1:g.8161G>A
NG_033090.1:g.13836C>T
NG_033090.2:g.13836C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000335542.13:c.200G>A (GHRL) MANE Select ENSP00000335074.8:p.Gly67Glu
ENST00000287656.11:c.197G>A (GHRL) ENSP00000287656.7:p.Gly66Glu
ENST00000335542.12:c.200G>A (GHRL) ENSP00000335074.8:p.Gly67Glu
ENST00000422159.5:c.200G>A (GHRL) ENSP00000405464.1:p.Gly67Glu
ENST00000429122.1:c.200G>A (GHRL) ENSP00000414819.1:p.Gly67Glu
ENST00000430179.5:c.197G>A (GHRL) ENSP00000399922.1:p.Gly66Glu
ENST00000437422.6:c.164G>A (GHRL) ENSP00000416768.2:p.Gly55Glu
ENST00000439975.6:c.73-2975G>A (GHRL) ENSP00000403725.2:n.73-2975G>A
ENST00000446937.2:c.72+3055G>A (GHRL) ENSP00000394923.2:n.72+3055G>A
ENST00000449238.6:c.161G>A (GHRL) ENSP00000388145.2:p.Gly54Glu
ENST00000457360.5:c.200G>A (GHRL) ENSP00000391406.1:p.Gly67Glu
ENST00000475759.5:n.21G>A (GHRL)
ENST00000476283.1:n.21G>A (GHRL)
ENST00000481287.5:n.377G>A (GHRL)
ENST00000491589.5:n.291G>A (GHRL)
NM_001134941.2:c.197G>A (GHRL) NP_001128413.1:p.Gly66Glu
NM_001134944.1:c.164G>A (GHRL) NP_001128416.1:p.Gly55Glu
NM_001134945.1:c.161G>A (GHRL) NP_001128417.1:p.Gly54Glu
NM_001134946.1:c.73-2975G>A (GHRL) NP_001128418.1:n.73-2975G>A
NM_001302821.1:c.200G>A (GHRL) NP_001289750.1:p.Gly67Glu
NM_001302822.1:c.200G>A (GHRL) NP_001289751.1:p.Gly67Glu
NM_001302823.1:c.197G>A (GHRL) NP_001289752.1:p.Gly66Glu
NM_001302824.1:c.200G>A (GHRL) NP_001289753.1:p.Gly67Glu
NM_001302825.1:c.200G>A (GHRL) NP_001289754.1:p.Gly67Glu
NM_016362.4:c.200G>A (GHRL) NP_057446.1:p.Gly67Glu
NR_004431.3:n.383+1685C>T (GHRLOS)
NR_024144.2:n.466+1685C>T (GHRLOS)
NR_024145.2:n.555+1685C>T (GHRLOS)
NR_073566.1:n.566+1681C>T (GHRLOS)
NR_073567.1:n.554+1685C>T (GHRLOS)
NR_073568.1:n.409+1685C>T (GHRLOS)
NR_126505.1:n.106+3055G>A (GHRL)
XM_017006612.2:c.200G>A (GHRL) XP_016862101.1:p.Gly67Glu
XM_017006613.2:c.197G>A (GHRL) XP_016862102.1:p.Gly66Glu
XM_024453594.1:c.200G>A (GHRL) XP_024309362.1:p.Gly67Glu
NM_001134941.3:c.197G>A (GHRL) NP_001128413.1:p.Gly66Glu
NM_001134944.2:c.164G>A (GHRL) NP_001128416.1:p.Gly55Glu
NM_001134945.2:c.161G>A (GHRL) NP_001128417.1:p.Gly54Glu
NM_001134946.2:c.73-2975G>A (GHRL) NP_001128418.1:n.73-2975G>A
NM_001302821.2:c.200G>A (GHRL) NP_001289750.1:p.Gly67Glu
NM_001302822.2:c.200G>A (GHRL) NP_001289751.1:p.Gly67Glu
NM_001302823.2:c.197G>A (GHRL) NP_001289752.1:p.Gly66Glu
NM_001302824.2:c.200G>A (GHRL) NP_001289753.1:p.Gly67Glu
NM_001302825.2:c.200G>A (GHRL) NP_001289754.1:p.Gly67Glu
NM_016362.5:c.200G>A (GHRL) MANE Select NP_057446.1:p.Gly67Glu
NR_126505.2:n.106+3055G>A (GHRL)