Canonical Allele Identifier: CA371751938

Gene: GDF6

Linked Data

• dbSNP Id: rs1812454061
• gnomAD v3: 8-96145179-C-A
• gnomAD v4: 8-96145179-C-A
• MyVariant Identifiers: chr8:g.97157407C>A (hg19) ; chr8:g.96145179C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.752G>T MANE Select	ENSP00000287020.4:p.Gly251Val
ENST00000287020.6:c.752G>T	ENSP00000287020.4:p.Gly251Val
ENST00000620978.1:c.707-17G>T	ENSP00000480170.1:n.707-17G>T
ENST00000621429.1:c.752G>T	ENSP00000483711.1:p.Gly251Val
NM_001001557.2:c.752G>T	NP_001001557.1:p.Gly251Val
XM_011517030.1:c.353G>T	XP_011515332.1:p.Gly118Val
NM_001001557.3:c.752G>T	NP_001001557.1:p.Gly251Val
NM_001001557.4:c.752G>T MANE Select	NP_001001557.1:p.Gly251Val