Canonical Allele Identifier: CA462454629
Gene: GDF6 HGNC NCBI

Linked Data

gnomAD v4: 8-96144983-C-A
MyVariant Identifiers: chr8:g.97157211C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96144983C>A , CM000670.2:g.96144983C>A GRCh38
NC_000008.10:g.97157211C>A , CM000670.1:g.97157211C>A GRCh37
NC_000008.9:g.97226387C>A NCBI36
NG_008981.1:g.20810G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.948G>T MANE Select ENSP00000287020.4:p.Pro316=
ENST00000287020.6:c.948G>T ENSP00000287020.4:p.Pro316=
ENST00000620978.1:c.793+93G>T ENSP00000480170.1:n.793+93G>T
ENST00000621429.1:c.874+74G>T ENSP00000483711.1:n.874+74G>T
NM_001001557.2:c.948G>T NP_001001557.1:p.Pro316=
XM_011517030.1:c.549G>T XP_011515332.1:p.Pro183=
NM_001001557.3:c.948G>T NP_001001557.1:p.Pro316=
NM_001001557.4:c.948G>T MANE Select NP_001001557.1:p.Pro316=
Search 100 bp 5'
Search 100 bp 3'