Canonical Allele Identifier: CA4815398

Gene: GDF6

Linked Data

• dbSNP Id: rs764553577
• ExAC: 8:97157302 C / G
• gnomAD v2: 8-97157302-C-G
• gnomAD v4: 8-96145074-C-G
• MyVariant Identifiers: chr8:g.97157302C>G (hg19) ; chr8:g.96145074C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145074C>G , CM000670.2:g.96145074C>G	GRCh38
NC_000008.10:g.97157302C>G , CM000670.1:g.97157302C>G	GRCh37
NC_000008.9:g.97226478C>G	NCBI36
NG_008981.1:g.20719G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000287020.7:c.857G>C MANE Select	ENSP00000287020.4:p.Arg286Pro
ENST00000287020.6:c.857G>C	ENSP00000287020.4:p.Arg286Pro
ENST00000620978.1:c.793+2G>C	ENSP00000480170.1:n.793+2G>C
ENST00000621429.1:c.857G>C	ENSP00000483711.1:p.Arg286Pro
NM_001001557.2:c.857G>C	NP_001001557.1:p.Arg286Pro
XM_011517030.1:c.458G>C	XP_011515332.1:p.Arg153Pro
NM_001001557.3:c.857G>C	NP_001001557.1:p.Arg286Pro
NM_001001557.4:c.857G>C MANE Select	NP_001001557.1:p.Arg286Pro