Canonical Allele Identifier: CA371752110

Gene: GDF6

Linked Data

• dbSNP Id: rs1812457164
• gnomAD v4: 8-96145261-G-C
• MyVariant Identifiers: chr8:g.97157489G>C (hg19) ; chr8:g.96145261G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145261G>C , CM000670.2:g.96145261G>C	GRCh38
NC_000008.10:g.97157489G>C , CM000670.1:g.97157489G>C	GRCh37
NC_000008.9:g.97226665G>C	NCBI36
NG_008981.1:g.20532C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.670C>G MANE Select	ENSP00000287020.4:p.Gln224Glu
ENST00000287020.6:c.670C>G	ENSP00000287020.4:p.Gln224Glu
ENST00000620978.1:c.670C>G	ENSP00000480170.1:p.Gln224Glu
ENST00000621429.1:c.670C>G	ENSP00000483711.1:p.Gln224Glu
NM_001001557.2:c.670C>G	NP_001001557.1:p.Gln224Glu
XM_011517030.1:c.271C>G	XP_011515332.1:p.Gln91Glu
NM_001001557.3:c.670C>G	NP_001001557.1:p.Gln224Glu
NM_001001557.4:c.670C>G MANE Select	NP_001001557.1:p.Gln224Glu