Canonical Allele Identifier: CA371753782
Gene: GDF6 HGNC NCBI

Linked Data

dbSNP Id: rs770207817
gnomAD v3: 8-96160511-C-T
gnomAD v4: 8-96160511-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160511C>T , CM000670.2:g.96160511C>T GRCh38
NC_000008.10:g.97172739C>T , CM000670.1:g.97172739C>T GRCh37
NC_000008.9:g.97241915C>T NCBI36
NG_008981.1:g.5282G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.182G>A MANE Select ENSP00000287020.4:p.Gly61Asp
ENST00000287020.6:c.182G>A ENSP00000287020.4:p.Gly61Asp
ENST00000620978.1:c.182G>A ENSP00000480170.1:p.Gly61Asp
ENST00000621429.1:c.182G>A ENSP00000483711.1:p.Gly61Asp
NM_001001557.2:c.182G>A NP_001001557.1:p.Gly61Asp
NM_001001557.3:c.182G>A NP_001001557.1:p.Gly61Asp
NM_001001557.4:c.182G>A MANE Select NP_001001557.1:p.Gly61Asp