Canonical Allele Identifier: CA4815528
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1938713
ClinVar RCV Id: RCV002646488 RCV002646489
dbSNP Id: rs753416812
ExAC: 8:97172702 G / T
gnomAD v2: 8-97172702-G-T
gnomAD v4: 8-96160474-G-T
MyVariant Identifiers: chr8:g.97172702G>T (hg19) chr8:g.96160474G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96160474G>T , CM000670.2:g.96160474G>T GRCh38
NC_000008.10:g.97172702G>T , CM000670.1:g.97172702G>T GRCh37
NC_000008.9:g.97241878G>T NCBI36
NG_008981.1:g.5319C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.219C>A MANE Select ENSP00000287020.4:p.Asp73Glu
ENST00000287020.6:c.219C>A ENSP00000287020.4:p.Asp73Glu
ENST00000620978.1:c.219C>A ENSP00000480170.1:p.Asp73Glu
ENST00000621429.1:c.219C>A ENSP00000483711.1:p.Asp73Glu
NM_001001557.2:c.219C>A NP_001001557.1:p.Asp73Glu
NM_001001557.3:c.219C>A NP_001001557.1:p.Asp73Glu
NM_001001557.4:c.219C>A MANE Select NP_001001557.1:p.Asp73Glu
Search 100 bp 5'
Search 100 bp 3'