Canonical Allele Identifier: CA1116871836
Gene: GDF6 HGNC NCBI

Linked Data

dbSNP Id: rs1812735457
gnomAD v3: 8-96160129-C-T
gnomAD v4: 8-96160129-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160129C>T , CM000670.2:g.96160129C>T GRCh38
NC_000008.10:g.97172357C>T , CM000670.1:g.97172357C>T GRCh37
NC_000008.9:g.97241533C>T NCBI36
NG_008981.1:g.5664G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.406+158G>A MANE Select ENSP00000287020.4:n.406+158G>A
ENST00000287020.6:c.406+158G>A ENSP00000287020.4:n.406+158G>A
ENST00000620978.1:c.406+158G>A ENSP00000480170.1:n.406+158G>A
ENST00000621429.1:c.406+158G>A ENSP00000483711.1:n.406+158G>A
NM_001001557.2:c.406+158G>A NP_001001557.1:n.406+158G>A
NM_001001557.3:c.406+158G>A NP_001001557.1:n.406+158G>A
NM_001001557.4:c.406+158G>A MANE Select NP_001001557.1:n.406+158G>A