Canonical Allele Identifier: CA462454881
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1630525
ClinVar RCV Id: RCV002121253
dbSNP Id: rs1199396087
gnomAD v2: 8-97157484-G-A
gnomAD v3: 8-96145256-G-A
gnomAD v4: 8-96145256-G-A
MyVariant Identifiers: chr8:g.97157484G>A (hg19) chr8:g.96145256G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145256G>A , CM000670.2:g.96145256G>A GRCh38
NC_000008.10:g.97157484G>A , CM000670.1:g.97157484G>A GRCh37
NC_000008.9:g.97226660G>A NCBI36
NG_008981.1:g.20537C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.675C>T MANE Select ENSP00000287020.4:p.Pro225=
ENST00000287020.6:c.675C>T ENSP00000287020.4:p.Pro225=
ENST00000620978.1:c.675C>T ENSP00000480170.1:p.Pro225=
ENST00000621429.1:c.675C>T ENSP00000483711.1:p.Pro225=
NM_001001557.2:c.675C>T NP_001001557.1:p.Pro225=
XM_011517030.1:c.276C>T XP_011515332.1:p.Pro92=
NM_001001557.3:c.675C>T NP_001001557.1:p.Pro225=
NM_001001557.4:c.675C>T MANE Select NP_001001557.1:p.Pro225=
Search 100 bp 5'
Search 100 bp 3'