Canonical Allele Identifier: CA181484928
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 912529
ClinVar RCV Id: RCV001165791
dbSNP Id: rs558525706
gnomAD v2: 8-97156171-T-C
gnomAD v3: 8-96143943-T-C
gnomAD v4: 8-96143943-T-C
MyVariant Identifiers: chr8:g.97156171T>C (hg19) chr8:g.96143943T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96143943T>C , CM000670.2:g.96143943T>C GRCh38
NC_000008.10:g.97156171T>C , CM000670.1:g.97156171T>C GRCh37
NC_000008.9:g.97225347T>C NCBI36
NG_008981.1:g.21850A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.*620A>G MANE Select ENSP00000287020.4:n.*620A>G
ENST00000287020.6:c.*620A>G ENSP00000287020.4:n.*620A>G
NM_001001557.2:c.*620A>G NP_001001557.1:n.*620A>G
XM_011517030.1:c.*620A>G XP_011515332.1:n.*620A>G
NM_001001557.3:c.*620A>G NP_001001557.1:n.*620A>G
NM_001001557.4:c.*620A>G MANE Select NP_001001557.1:n.*620A>G
Search 100 bp 5'
Search 100 bp 3'