Canonical Allele Identifier: CA371751680

Gene: GDF6

Linked Data

• dbSNP Id: rs1812450358
• gnomAD v4: 8-96145083-C-T
• MyVariant Identifiers: chr8:g.97157311C>T (hg19) ; chr8:g.96145083C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145083C>T , CM000670.2:g.96145083C>T	GRCh38
NC_000008.10:g.97157311C>T , CM000670.1:g.97157311C>T	GRCh37
NC_000008.9:g.97226487C>T	NCBI36
NG_008981.1:g.20710G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000287020.7:c.848G>A MANE Select	ENSP00000287020.4:p.Arg283Lys
ENST00000287020.6:c.848G>A	ENSP00000287020.4:p.Arg283Lys
ENST00000620978.1:c.786G>A	ENSP00000480170.1:p.Gln262=
ENST00000621429.1:c.848G>A	ENSP00000483711.1:p.Arg283Lys
NM_001001557.2:c.848G>A	NP_001001557.1:p.Arg283Lys
XM_011517030.1:c.449G>A	XP_011515332.1:p.Arg150Lys
NM_001001557.3:c.848G>A	NP_001001557.1:p.Arg283Lys
NM_001001557.4:c.848G>A MANE Select	NP_001001557.1:p.Arg283Lys