Canonical Allele Identifier: CA4815498
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2076642
ClinVar RCV Id: RCV002972419
dbSNP Id: rs575981211
ExAC: 8:97172586 C / G
gnomAD v2: 8-97172586-C-G
gnomAD v3: 8-96160358-C-G
gnomAD v4: 8-96160358-C-G
MyVariant Identifiers: chr8:g.97172586C>G (hg19) chr8:g.96160358C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160358C>G , CM000670.2:g.96160358C>G GRCh38
NC_000008.10:g.97172586C>G , CM000670.1:g.97172586C>G GRCh37
NC_000008.9:g.97241762C>G NCBI36
NG_008981.1:g.5435G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.335G>C MANE Select ENSP00000287020.4:p.Gly112Ala
ENST00000287020.6:c.335G>C ENSP00000287020.4:p.Gly112Ala
ENST00000620978.1:c.335G>C ENSP00000480170.1:p.Gly112Ala
ENST00000621429.1:c.335G>C ENSP00000483711.1:p.Gly112Ala
NM_001001557.2:c.335G>C NP_001001557.1:p.Gly112Ala
NM_001001557.3:c.335G>C NP_001001557.1:p.Gly112Ala
NM_001001557.4:c.335G>C MANE Select NP_001001557.1:p.Gly112Ala
Search 100 bp 5'
Search 100 bp 3'