Canonical Allele Identifier: CA355514608
Gene: GHSR HGNC NCBI

Linked Data

dbSNP Id: rs748935142
gnomAD v3: 3-172447999-C-G
gnomAD v4: 3-172447999-C-G
MyVariant Identifiers: chr3:g.172165789C>G (hg19) chr3:g.172447999C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172447999C>G , CM000665.2:g.172447999C>G GRCh38
NC_000003.11:g.172165789C>G , CM000665.1:g.172165789C>G GRCh37
NC_000003.10:g.173648483C>G NCBI36
NG_021159.1:g.5458G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.415G>C MANE Select ENSP00000241256.2:p.Val139Leu
ENST00000241256.2:c.415G>C ENSP00000241256.2:p.Val139Leu
ENST00000427970.1:c.415G>C ENSP00000395344.1:p.Val139Leu
NM_004122.2:c.415G>C NP_004113.1:p.Val139Leu
NM_198407.2:c.415G>C MANE Select NP_940799.1:p.Val139Leu
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