Canonical Allele Identifier: CA10631729
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 364021
ClinVar RCV Id: RCV000337456
dbSNP Id: rs886063196
gnomAD v4: 8-96143910-G-T
MyVariant Identifiers: chr8:g.97156138G>T (hg19) chr8:g.96143910G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96143910G>T , CM000670.2:g.96143910G>T GRCh38
NC_000008.10:g.97156138G>T , CM000670.1:g.97156138G>T GRCh37
NC_000008.9:g.97225314G>T NCBI36
NG_008981.1:g.21883C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.*653C>A MANE Select ENSP00000287020.4:n.*653C>A
ENST00000287020.6:c.*653C>A ENSP00000287020.4:n.*653C>A
NM_001001557.2:c.*653C>A NP_001001557.1:n.*653C>A
XM_011517030.1:c.*653C>A XP_011515332.1:n.*653C>A
NM_001001557.3:c.*653C>A NP_001001557.1:n.*653C>A
NM_001001557.4:c.*653C>A MANE Select NP_001001557.1:n.*653C>A
Search 100 bp 5'
Search 100 bp 3'