Canonical Allele Identifier: CA371752123

Gene: GDF6

Linked Data

• gnomAD v4: 8-96145267-G-A
• MyVariant Identifiers: chr8:g.97157495G>A (hg19) ; chr8:g.96145267G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145267G>A , CM000670.2:g.96145267G>A	GRCh38
NC_000008.10:g.97157495G>A , CM000670.1:g.97157495G>A	GRCh37
NC_000008.9:g.97226671G>A	NCBI36
NG_008981.1:g.20526C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.664C>T MANE Select	ENSP00000287020.4:p.Arg222Cys
ENST00000287020.6:c.664C>T	ENSP00000287020.4:p.Arg222Cys
ENST00000620978.1:c.664C>T	ENSP00000480170.1:p.Arg222Cys
ENST00000621429.1:c.664C>T	ENSP00000483711.1:p.Arg222Cys
NM_001001557.2:c.664C>T	NP_001001557.1:p.Arg222Cys
XM_011517030.1:c.265C>T	XP_011515332.1:p.Arg89Cys
NM_001001557.3:c.664C>T	NP_001001557.1:p.Arg222Cys
NM_001001557.4:c.664C>T MANE Select	NP_001001557.1:p.Arg222Cys