Canonical Allele Identifier: CA371751944

Gene: GDF6

Linked Data

• gnomAD v4: 8-96145182-C-A
• MyVariant Identifiers: chr8:g.97157410C>A (hg19) ; chr8:g.96145182C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145182C>A , CM000670.2:g.96145182C>A	GRCh38
NC_000008.10:g.97157410C>A , CM000670.1:g.97157410C>A	GRCh37
NC_000008.9:g.97226586C>A	NCBI36
NG_008981.1:g.20611G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000287020.7:c.749G>T MANE Select	ENSP00000287020.4:p.Arg250Leu
ENST00000287020.6:c.749G>T	ENSP00000287020.4:p.Arg250Leu
ENST00000620978.1:c.707-20G>T	ENSP00000480170.1:n.707-20G>T
ENST00000621429.1:c.749G>T	ENSP00000483711.1:p.Arg250Leu
NM_001001557.2:c.749G>T	NP_001001557.1:p.Arg250Leu
XM_011517030.1:c.350G>T	XP_011515332.1:p.Arg117Leu
NM_001001557.3:c.749G>T	NP_001001557.1:p.Arg250Leu
NM_001001557.4:c.749G>T MANE Select	NP_001001557.1:p.Arg250Leu