Canonical Allele Identifier: CA4815400

Gene: GDF6

Linked Data

• dbSNP Id: rs757715384
• ExAC: 8:97157305 T / C
• gnomAD v2: 8-97157305-T-C
• gnomAD v4: 8-96145077-T-C
• MyVariant Identifiers: chr8:g.97157305T>C (hg19) ; chr8:g.96145077T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145077T>C , CM000670.2:g.96145077T>C	GRCh38
NC_000008.10:g.97157305T>C , CM000670.1:g.97157305T>C	GRCh37
NC_000008.9:g.97226481T>C	NCBI36
NG_008981.1:g.20716A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000287020.7:c.854A>G MANE Select	ENSP00000287020.4:p.Gln285Arg
ENST00000287020.6:c.854A>G	ENSP00000287020.4:p.Gln285Arg
ENST00000620978.1:c.792A>G	ENSP00000480170.1:p.Pro264=
ENST00000621429.1:c.854A>G	ENSP00000483711.1:p.Gln285Arg
NM_001001557.2:c.854A>G	NP_001001557.1:p.Gln285Arg
XM_011517030.1:c.455A>G	XP_011515332.1:p.Gln152Arg
NM_001001557.3:c.854A>G	NP_001001557.1:p.Gln285Arg
NM_001001557.4:c.854A>G MANE Select	NP_001001557.1:p.Gln285Arg