Canonical Allele Identifier: CA371751687

Gene: GDF6

Linked Data

• gnomAD v4: 8-96145086-G-A
• MyVariant Identifiers: chr8:g.97157314G>A (hg19) ; chr8:g.96145086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145086G>A , CM000670.2:g.96145086G>A	GRCh38
NC_000008.10:g.97157314G>A , CM000670.1:g.97157314G>A	GRCh37
NC_000008.9:g.97226490G>A	NCBI36
NG_008981.1:g.20707C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000287020.7:c.845C>T MANE Select	ENSP00000287020.4:p.Thr282Ile
ENST00000287020.6:c.845C>T	ENSP00000287020.4:p.Thr282Ile
ENST00000620978.1:c.783C>T	ENSP00000480170.1:p.His261=
ENST00000621429.1:c.845C>T	ENSP00000483711.1:p.Thr282Ile
NM_001001557.2:c.845C>T	NP_001001557.1:p.Thr282Ile
XM_011517030.1:c.446C>T	XP_011515332.1:p.Thr149Ile
NM_001001557.3:c.845C>T	NP_001001557.1:p.Thr282Ile
NM_001001557.4:c.845C>T MANE Select	NP_001001557.1:p.Thr282Ile