Canonical Allele Identifier: CA371752065

Gene: GDF6

Linked Data

• dbSNP Id: rs1285124798
• gnomAD v3: 8-96145242-C-T
• gnomAD v4: 8-96145242-C-T
• MyVariant Identifiers: chr8:g.97157470C>T (hg19) ; chr8:g.96145242C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145242C>T , CM000670.2:g.96145242C>T	GRCh38
NC_000008.10:g.97157470C>T , CM000670.1:g.97157470C>T	GRCh37
NC_000008.9:g.97226646C>T	NCBI36
NG_008981.1:g.20551G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.689G>A MANE Select	ENSP00000287020.4:p.Cys230Tyr
ENST00000287020.6:c.689G>A	ENSP00000287020.4:p.Cys230Tyr
ENST00000620978.1:c.689G>A	ENSP00000480170.1:p.Cys230Tyr
ENST00000621429.1:c.689G>A	ENSP00000483711.1:p.Cys230Tyr
NM_001001557.2:c.689G>A	NP_001001557.1:p.Cys230Tyr
XM_011517030.1:c.290G>A	XP_011515332.1:p.Cys97Tyr
NM_001001557.3:c.689G>A	NP_001001557.1:p.Cys230Tyr
NM_001001557.4:c.689G>A MANE Select	NP_001001557.1:p.Cys230Tyr