Canonical Allele Identifier: CA371751679

Gene: GDF6

Linked Data

• gnomAD v4: 8-96145083-C-G
• MyVariant Identifiers: chr8:g.97157311C>G (hg19) ; chr8:g.96145083C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145083C>G , CM000670.2:g.96145083C>G	GRCh38
NC_000008.10:g.97157311C>G , CM000670.1:g.97157311C>G	GRCh37
NC_000008.9:g.97226487C>G	NCBI36
NG_008981.1:g.20710G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000287020.7:c.848G>C MANE Select	ENSP00000287020.4:p.Arg283Thr
ENST00000287020.6:c.848G>C	ENSP00000287020.4:p.Arg283Thr
ENST00000620978.1:c.786G>C	ENSP00000480170.1:p.Gln262His
ENST00000621429.1:c.848G>C	ENSP00000483711.1:p.Arg283Thr
NM_001001557.2:c.848G>C	NP_001001557.1:p.Arg283Thr
XM_011517030.1:c.449G>C	XP_011515332.1:p.Arg150Thr
NM_001001557.3:c.848G>C	NP_001001557.1:p.Arg283Thr
NM_001001557.4:c.848G>C MANE Select	NP_001001557.1:p.Arg283Thr