Canonical Allele Identifier: CA371751932
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2921535
ClinVar RCV Id: RCV003780117
MyVariant Identifiers: chr8:g.97157404G>C (hg19) chr8:g.96145176G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145176G>C , CM000670.2:g.96145176G>C GRCh38
NC_000008.10:g.97157404G>C , CM000670.1:g.97157404G>C GRCh37
NC_000008.9:g.97226580G>C NCBI36
NG_008981.1:g.20617C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.755C>G MANE Select ENSP00000287020.4:p.Pro252Arg
ENST00000287020.6:c.755C>G ENSP00000287020.4:p.Pro252Arg
ENST00000620978.1:c.707-14C>G ENSP00000480170.1:n.707-14C>G
ENST00000621429.1:c.755C>G ENSP00000483711.1:p.Pro252Arg
NM_001001557.2:c.755C>G NP_001001557.1:p.Pro252Arg
XM_011517030.1:c.356C>G XP_011515332.1:p.Pro119Arg
NM_001001557.3:c.755C>G NP_001001557.1:p.Pro252Arg
NM_001001557.4:c.755C>G MANE Select NP_001001557.1:p.Pro252Arg
Search 100 bp 5'
Search 100 bp 3'