Canonical Allele Identifier: CA371752096

Gene: GDF6

Linked Data

• dbSNP Id: rs1479726238
• gnomAD v2: 8-97157483-A-G
• gnomAD v4: 8-96145255-A-G
• MyVariant Identifiers: chr8:g.97157483A>G (hg19) ; chr8:g.96145255A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145255A>G , CM000670.2:g.96145255A>G	GRCh38
NC_000008.10:g.97157483A>G , CM000670.1:g.97157483A>G	GRCh37
NC_000008.9:g.97226659A>G	NCBI36
NG_008981.1:g.20538T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.676T>C MANE Select	ENSP00000287020.4:p.Trp226Arg
ENST00000287020.6:c.676T>C	ENSP00000287020.4:p.Trp226Arg
ENST00000620978.1:c.676T>C	ENSP00000480170.1:p.Trp226Arg
ENST00000621429.1:c.676T>C	ENSP00000483711.1:p.Trp226Arg
NM_001001557.2:c.676T>C	NP_001001557.1:p.Trp226Arg
XM_011517030.1:c.277T>C	XP_011515332.1:p.Trp93Arg
NM_001001557.3:c.676T>C	NP_001001557.1:p.Trp226Arg
NM_001001557.4:c.676T>C MANE Select	NP_001001557.1:p.Trp226Arg