Canonical Allele Identifier: CA371751677

Gene: GDF6

Linked Data

• gnomAD v4: 8-96145082-T-A
• MyVariant Identifiers: chr8:g.97157310T>A (hg19) ; chr8:g.96145082T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145082T>A , CM000670.2:g.96145082T>A	GRCh38
NC_000008.10:g.97157310T>A , CM000670.1:g.97157310T>A	GRCh37
NC_000008.9:g.97226486T>A	NCBI36
NG_008981.1:g.20711A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000287020.7:c.849A>T MANE Select	ENSP00000287020.4:p.Arg283Ser
ENST00000287020.6:c.849A>T	ENSP00000287020.4:p.Arg283Ser
ENST00000620978.1:c.787A>T	ENSP00000480170.1:p.Ile263Phe
ENST00000621429.1:c.849A>T	ENSP00000483711.1:p.Arg283Ser
NM_001001557.2:c.849A>T	NP_001001557.1:p.Arg283Ser
XM_011517030.1:c.450A>T	XP_011515332.1:p.Arg150Ser
NM_001001557.3:c.849A>T	NP_001001557.1:p.Arg283Ser
NM_001001557.4:c.849A>T MANE Select	NP_001001557.1:p.Arg283Ser