Canonical Allele Identifier: CA371752034
Gene: GDF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1053991
ClinVar RCV Id: RCV001362422
dbSNP Id: rs1262253139
gnomAD v2: 8-97157456-C-T
gnomAD v4: 8-96145228-C-T
MyVariant Identifiers: chr8:g.97157456C>T (hg19) chr8:g.96145228C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.96145228C>T , CM000670.2:g.96145228C>T GRCh38
NC_000008.10:g.97157456C>T , CM000670.1:g.97157456C>T GRCh37
NC_000008.9:g.97226632C>T NCBI36
NG_008981.1:g.20565G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287020.7:c.703G>A MANE Select ENSP00000287020.4:p.Ala235Thr
ENST00000287020.6:c.703G>A ENSP00000287020.4:p.Ala235Thr
ENST00000620978.1:c.703G>A ENSP00000480170.1:p.Ala235Thr
ENST00000621429.1:c.703G>A ENSP00000483711.1:p.Ala235Thr
NM_001001557.2:c.703G>A NP_001001557.1:p.Ala235Thr
XM_011517030.1:c.304G>A XP_011515332.1:p.Ala102Thr
NM_001001557.3:c.703G>A NP_001001557.1:p.Ala235Thr
NM_001001557.4:c.703G>A MANE Select NP_001001557.1:p.Ala235Thr
Search 100 bp 5'
Search 100 bp 3'