Canonical Allele Identifier: CA1542173444
Community Standard Title: NM_000163.5(GHR):c.-12+49498G=
Gene: GHR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.42473453G= , CM000667.2:g.42473453G= GRCh38
NC_000005.9:g.42473555G= , CM000667.1:g.42473555G= GRCh37
NC_000005.8:g.42509312G= NCBI36
NG_011688.1:g.54530G=
NG_011688.2:g.54530G=

Transcript Alleles

HGVS Amino-acid Change
NM_000163.5:c.-12+49498G= MANE Select NP_000154.1:n.-12+49498G=
ENST00000230882.9:c.-12+49498G= MANE Select ENSP00000230882.4:n.-12+49498G=
NM_000163.4:c.-12+49498G= NP_000154.1:n.-12+49498G=
NM_001242399.2:c.10+48855G= NP_001229328.1:n.10+48855G=
NM_001242400.2:c.-296-40627G= NP_001229329.1:n.-296-40627G=
NM_001242401.3:c.-104-9784G= NP_001229330.1:n.-104-9784G=
NM_001242401.4:c.-104-9784G= NP_001229330.1:n.-104-9784G=
ENST00000230882.8:c.-12+49498G= ENSP00000230882.4:n.-12+49498G=
ENST00000513671.5:c.-12+48855G= ENSP00000426739.1:n.-12+48855G=
ENST00000615111.4:c.-296-40627G= ENSP00000478291.1:n.-296-40627G=
ENST00000620156.4:c.10+48855G= ENSP00000483403.1:n.10+48855G=
XM_011514031.1:c.10+48855G= XP_011512333.1:n.10+48855G=