Canonical Allele Identifier: CA4815543
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1569103
ClinVar RCV Id: RCV002218849
dbSNP Id: rs753326851
ExAC: 8:97172764 G / T
gnomAD v2: 8-97172764-G-T
gnomAD v4: 8-96160536-G-T
MyVariant Identifiers: chr8:g.97172764G>T (hg19) chr8:g.96160536G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160536G>T , CM000670.2:g.96160536G>T GRCh38
NC_000008.10:g.97172764G>T , CM000670.1:g.97172764G>T GRCh37
NC_000008.9:g.97241940G>T NCBI36
NG_008981.1:g.5257C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.157C>A MANE Select ENSP00000287020.4:p.Arg53=
ENST00000287020.6:c.157C>A ENSP00000287020.4:p.Arg53=
ENST00000620978.1:c.157C>A ENSP00000480170.1:p.Arg53=
ENST00000621429.1:c.157C>A ENSP00000483711.1:p.Arg53=
NM_001001557.2:c.157C>A NP_001001557.1:p.Arg53=
NM_001001557.3:c.157C>A NP_001001557.1:p.Arg53=
NM_001001557.4:c.157C>A MANE Select NP_001001557.1:p.Arg53=
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Search 100 bp 3'