Canonical Allele Identifier: CA4815537
Gene: GDF6 HGNC NCBI

Linked Data

dbSNP Id: rs770941597
ExAC: 8:97172748 C / G
gnomAD v2: 8-97172748-C-G
gnomAD v4: 8-96160520-C-G
MyVariant Identifiers: chr8:g.97172748C>G (hg19) chr8:g.96160520C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160520C>G , CM000670.2:g.96160520C>G GRCh38
NC_000008.10:g.97172748C>G , CM000670.1:g.97172748C>G GRCh37
NC_000008.9:g.97241924C>G NCBI36
NG_008981.1:g.5273G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.173G>C MANE Select ENSP00000287020.4:p.Ser58Thr
ENST00000287020.6:c.173G>C ENSP00000287020.4:p.Ser58Thr
ENST00000620978.1:c.173G>C ENSP00000480170.1:p.Ser58Thr
ENST00000621429.1:c.173G>C ENSP00000483711.1:p.Ser58Thr
NM_001001557.2:c.173G>C NP_001001557.1:p.Ser58Thr
NM_001001557.3:c.173G>C NP_001001557.1:p.Ser58Thr
NM_001001557.4:c.173G>C MANE Select NP_001001557.1:p.Ser58Thr
Search 100 bp 5'
Search 100 bp 3'