Canonical Allele Identifier: CA3254278
Gene: GHR HGNC NCBI

Linked Data

dbSNP Id: rs34838342
ExAC: 5:42565986 T / C
gnomAD v2: 5-42565986-T-C
gnomAD v3: 5-42565884-T-C
gnomAD v4: 5-42565884-T-C
MyVariant Identifiers: chr5:g.42565986T>C (hg19) chr5:g.42565884T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.42565884T>C , CM000667.2:g.42565884T>C GRCh38
NC_000005.9:g.42565986T>C , CM000667.1:g.42565986T>C GRCh37
NC_000005.8:g.42601743T>C NCBI36
NG_011688.1:g.146961T>C
NG_011688.2:g.146961T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000230882.9:c.10T>C MANE Select ENSP00000230882.4:p.Trp4Arg
ENST00000230882.8:c.10T>C ENSP00000230882.4:p.Trp4Arg
ENST00000357703.6:c.10T>C ENSP00000350335.3:p.Trp4Arg
ENST00000505006.1:n.385T>C
ENST00000511135.5:c.10T>C ENSP00000422333.1:p.Trp4Arg
ENST00000513671.5:c.10T>C ENSP00000426739.1:p.Trp4Arg
ENST00000537449.5:c.10T>C ENSP00000442206.2:p.Trp4Arg
ENST00000612382.4:c.10T>C ENSP00000478332.1:p.Trp4Arg
ENST00000612626.4:c.10T>C ENSP00000479846.1:p.Trp4Arg
ENST00000615111.4:c.10T>C ENSP00000478291.1:p.Trp4Arg
ENST00000618088.4:c.10T>C ENSP00000482373.1:p.Trp4Arg
ENST00000620156.4:c.31T>C ENSP00000483403.1:p.Trp11Arg
ENST00000622294.2:c.10T>C ENSP00000483926.1:p.Trp4Arg
NM_000163.4:c.10T>C NP_000154.1:p.Trp4Arg
NM_001242399.2:c.31T>C NP_001229328.1:p.Trp11Arg
NM_001242400.2:c.10T>C NP_001229329.1:p.Trp4Arg
NM_001242401.3:c.10T>C NP_001229330.1:p.Trp4Arg
NM_001242402.2:c.10T>C NP_001229331.1:p.Trp4Arg
NM_001242403.2:c.10T>C NP_001229332.1:p.Trp4Arg
NM_001242404.2:c.10T>C NP_001229333.1:p.Trp4Arg
NM_001242405.2:c.10T>C NP_001229334.1:p.Trp4Arg
NM_001242406.2:c.10T>C NP_001229335.1:p.Trp4Arg
NM_001242460.1:c.10T>C NP_001229389.1:p.Trp4Arg
NM_001242462.1:c.10T>C NP_001229391.1:p.Trp4Arg
XM_011514031.1:c.31T>C XP_011512333.1:p.Trp11Arg
NM_000163.5:c.10T>C MANE Select NP_000154.1:p.Trp4Arg
NM_001242401.4:c.10T>C NP_001229330.1:p.Trp4Arg
NM_001242403.3:c.10T>C NP_001229332.1:p.Trp4Arg
Search 100 bp 5'
Search 100 bp 3'