Canonical Allele Identifier: CA4815384
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 364044
ClinVar RCV Id: RCV000404155 RCV002058750
dbSNP Id: rs757525366
ExAC: 8:97157202 G / T
gnomAD v2: 8-97157202-G-T
gnomAD v3: 8-96144974-G-T
gnomAD v4: 8-96144974-G-T
MyVariant Identifiers: chr8:g.97157202G>T (hg19) chr8:g.96144974G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96144974G>T , CM000670.2:g.96144974G>T GRCh38
NC_000008.10:g.97157202G>T , CM000670.1:g.97157202G>T GRCh37
NC_000008.9:g.97226378G>T NCBI36
NG_008981.1:g.20819C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.957C>A MANE Select ENSP00000287020.4:p.Ala319=
ENST00000287020.6:c.957C>A ENSP00000287020.4:p.Ala319=
ENST00000620978.1:c.793+102C>A ENSP00000480170.1:n.793+102C>A
ENST00000621429.1:c.874+83C>A ENSP00000483711.1:n.874+83C>A
NM_001001557.2:c.957C>A NP_001001557.1:p.Ala319=
XM_011517030.1:c.558C>A XP_011515332.1:p.Ala186=
NM_001001557.3:c.957C>A NP_001001557.1:p.Ala319=
NM_001001557.4:c.957C>A MANE Select NP_001001557.1:p.Ala319=
Search 100 bp 5'
Search 100 bp 3'