Canonical Allele Identifier: CA371751822

Gene: GDF6

Linked Data

• dbSNP Id: rs1379638437
• gnomAD v2: 8-97157362-C-T
• gnomAD v4: 8-96145134-C-T
• MyVariant Identifiers: chr8:g.97157362C>T (hg19) ; chr8:g.96145134C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145134C>T , CM000670.2:g.96145134C>T	GRCh38
NC_000008.10:g.97157362C>T , CM000670.1:g.97157362C>T	GRCh37
NC_000008.9:g.97226538C>T	NCBI36
NG_008981.1:g.20659G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.797G>A MANE Select	ENSP00000287020.4:p.Gly266Asp
ENST00000287020.6:c.797G>A	ENSP00000287020.4:p.Gly266Asp
ENST00000620978.1:c.735G>A	ENSP00000480170.1:p.Arg245=
ENST00000621429.1:c.797G>A	ENSP00000483711.1:p.Gly266Asp
NM_001001557.2:c.797G>A	NP_001001557.1:p.Gly266Asp
XM_011517030.1:c.398G>A	XP_011515332.1:p.Gly133Asp
NM_001001557.3:c.797G>A	NP_001001557.1:p.Gly266Asp
NM_001001557.4:c.797G>A MANE Select	NP_001001557.1:p.Gly266Asp