Canonical Allele Identifier: CA351778937

Linked Data

dbSNP Id: rs577387219
gnomAD v4: 3-10289785-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10289785C>T , CM000665.2:g.10289785C>T GRCh38
NC_000003.11:g.10331469C>T , CM000665.1:g.10331469C>T GRCh37
NC_000003.10:g.10306469C>T NCBI36
NG_011560.1:g.8163G>A
NG_033090.1:g.13834C>T
NG_033090.2:g.13834C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000335542.13:c.202G>A (GHRL) MANE Select ENSP00000335074.8:p.Ala68Thr
ENST00000287656.11:c.199G>A (GHRL) ENSP00000287656.7:p.Ala67Thr
ENST00000335542.12:c.202G>A (GHRL) ENSP00000335074.8:p.Ala68Thr
ENST00000422159.5:c.202G>A (GHRL) ENSP00000405464.1:p.Ala68Thr
ENST00000429122.1:c.202G>A (GHRL) ENSP00000414819.1:p.Ala68Thr
ENST00000430179.5:c.199G>A (GHRL) ENSP00000399922.1:p.Ala67Thr
ENST00000437422.6:c.166G>A (GHRL) ENSP00000416768.2:p.Ala56Thr
ENST00000439975.6:c.73-2973G>A (GHRL) ENSP00000403725.2:n.73-2973G>A
ENST00000446937.2:c.72+3057G>A (GHRL) ENSP00000394923.2:n.72+3057G>A
ENST00000449238.6:c.163G>A (GHRL) ENSP00000388145.2:p.Ala55Thr
ENST00000457360.5:c.202G>A (GHRL) ENSP00000391406.1:p.Ala68Thr
ENST00000475759.5:n.23G>A (GHRL)
ENST00000476283.1:n.23G>A (GHRL)
ENST00000481287.5:n.379G>A (GHRL)
ENST00000491589.5:n.293G>A (GHRL)
NM_001134941.2:c.199G>A (GHRL) NP_001128413.1:p.Ala67Thr
NM_001134944.1:c.166G>A (GHRL) NP_001128416.1:p.Ala56Thr
NM_001134945.1:c.163G>A (GHRL) NP_001128417.1:p.Ala55Thr
NM_001134946.1:c.73-2973G>A (GHRL) NP_001128418.1:n.73-2973G>A
NM_001302821.1:c.202G>A (GHRL) NP_001289750.1:p.Ala68Thr
NM_001302822.1:c.202G>A (GHRL) NP_001289751.1:p.Ala68Thr
NM_001302823.1:c.199G>A (GHRL) NP_001289752.1:p.Ala67Thr
NM_001302824.1:c.202G>A (GHRL) NP_001289753.1:p.Ala68Thr
NM_001302825.1:c.202G>A (GHRL) NP_001289754.1:p.Ala68Thr
NM_016362.4:c.202G>A (GHRL) NP_057446.1:p.Ala68Thr
NR_004431.3:n.383+1683C>T (GHRLOS)
NR_024144.2:n.466+1683C>T (GHRLOS)
NR_024145.2:n.555+1683C>T (GHRLOS)
NR_073566.1:n.566+1679C>T (GHRLOS)
NR_073567.1:n.554+1683C>T (GHRLOS)
NR_073568.1:n.409+1683C>T (GHRLOS)
NR_126505.1:n.106+3057G>A (GHRL)
XM_017006612.2:c.202G>A (GHRL) XP_016862101.1:p.Ala68Thr
XM_017006613.2:c.199G>A (GHRL) XP_016862102.1:p.Ala67Thr
XM_024453594.1:c.202G>A (GHRL) XP_024309362.1:p.Ala68Thr
NM_001134941.3:c.199G>A (GHRL) NP_001128413.1:p.Ala67Thr
NM_001134944.2:c.166G>A (GHRL) NP_001128416.1:p.Ala56Thr
NM_001134945.2:c.163G>A (GHRL) NP_001128417.1:p.Ala55Thr
NM_001134946.2:c.73-2973G>A (GHRL) NP_001128418.1:n.73-2973G>A
NM_001302821.2:c.202G>A (GHRL) NP_001289750.1:p.Ala68Thr
NM_001302822.2:c.202G>A (GHRL) NP_001289751.1:p.Ala68Thr
NM_001302823.2:c.199G>A (GHRL) NP_001289752.1:p.Ala67Thr
NM_001302824.2:c.202G>A (GHRL) NP_001289753.1:p.Ala68Thr
NM_001302825.2:c.202G>A (GHRL) NP_001289754.1:p.Ala68Thr
NM_016362.5:c.202G>A (GHRL) MANE Select NP_057446.1:p.Ala68Thr
NR_126505.2:n.106+3057G>A (GHRL)