Canonical Allele Identifier: CA355514882
Gene: GHSR HGNC NCBI

Linked Data

gnomAD v4: 3-172448050-C-G
MyVariant Identifiers: chr3:g.172165840C>G (hg19) chr3:g.172448050C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.172448050C>G , CM000665.2:g.172448050C>G GRCh38
NC_000003.11:g.172165840C>G , CM000665.1:g.172165840C>G GRCh37
NC_000003.10:g.173648534C>G NCBI36
NG_021159.1:g.5407G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000241256.3:c.364G>C MANE Select ENSP00000241256.2:p.Val122Leu
ENST00000241256.2:c.364G>C ENSP00000241256.2:p.Val122Leu
ENST00000427970.1:c.364G>C ENSP00000395344.1:p.Val122Leu
NM_004122.2:c.364G>C NP_004113.1:p.Val122Leu
NM_198407.2:c.364G>C MANE Select NP_940799.1:p.Val122Leu
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