Canonical Allele Identifier: CA371751940

Gene: GDF6

Linked Data

• MyVariant Identifiers: chr8:g.97157407C>T (hg19) ; chr8:g.96145179C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145179C>T , CM000670.2:g.96145179C>T	GRCh38
NC_000008.10:g.97157407C>T , CM000670.1:g.97157407C>T	GRCh37
NC_000008.9:g.97226583C>T	NCBI36
NG_008981.1:g.20614G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000287020.7:c.752G>A MANE Select	ENSP00000287020.4:p.Gly251Glu
ENST00000287020.6:c.752G>A	ENSP00000287020.4:p.Gly251Glu
ENST00000620978.1:c.707-17G>A	ENSP00000480170.1:n.707-17G>A
ENST00000621429.1:c.752G>A	ENSP00000483711.1:p.Gly251Glu
NM_001001557.2:c.752G>A	NP_001001557.1:p.Gly251Glu
XM_011517030.1:c.353G>A	XP_011515332.1:p.Gly118Glu
NM_001001557.3:c.752G>A	NP_001001557.1:p.Gly251Glu
NM_001001557.4:c.752G>A MANE Select	NP_001001557.1:p.Gly251Glu