Canonical Allele Identifier: CA4815478
Gene: GDF6 HGNC NCBI

Linked Data

dbSNP Id: rs111421390
gnomAD v2: 8-97172473-G-A
gnomAD v3: 8-96160245-G-A
gnomAD v4: 8-96160245-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160245G>A , CM000670.2:g.96160245G>A GRCh38
NC_000008.10:g.97172473G>A , CM000670.1:g.97172473G>A GRCh37
NC_000008.9:g.97241649G>A NCBI36
NG_008981.1:g.5548C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.406+42C>T MANE Select ENSP00000287020.4:n.406+42C>T
ENST00000287020.6:c.406+42C>T ENSP00000287020.4:n.406+42C>T
ENST00000620978.1:c.406+42C>T ENSP00000480170.1:n.406+42C>T
ENST00000621429.1:c.406+42C>T ENSP00000483711.1:n.406+42C>T
NM_001001557.2:c.406+42C>T NP_001001557.1:n.406+42C>T
NM_001001557.3:c.406+42C>T NP_001001557.1:n.406+42C>T
NM_001001557.4:c.406+42C>T MANE Select NP_001001557.1:n.406+42C>T