Canonical Allele Identifier: CA371749599
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1520240
ClinVar RCV Id: RCV002043908
dbSNP Id: rs769886732
gnomAD v4: 8-96144663-G-A
MyVariant Identifiers: chr8:g.97156891G>A (hg19) chr8:g.96144663G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96144663G>A , CM000670.2:g.96144663G>A GRCh38
NC_000008.10:g.97156891G>A , CM000670.1:g.97156891G>A GRCh37
NC_000008.9:g.97226067G>A NCBI36
NG_008981.1:g.21130C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000287020.7:c.1268C>T MANE Select ENSP00000287020.4:p.Thr423Ile
ENST00000287020.6:c.1268C>T ENSP00000287020.4:p.Thr423Ile
ENST00000620978.1:c.808C>T ENSP00000480170.1:p.Pro270Ser
ENST00000621429.1:c.1017C>T ENSP00000483711.1:p.His339=
NM_001001557.2:c.1268C>T NP_001001557.1:p.Thr423Ile
XM_011517030.1:c.869C>T XP_011515332.1:p.Thr290Ile
NM_001001557.3:c.1268C>T NP_001001557.1:p.Thr423Ile
NM_001001557.4:c.1268C>T MANE Select NP_001001557.1:p.Thr423Ile
Search 100 bp 5'
Search 100 bp 3'