Canonical Allele Identifier: CA371749609

Gene: GDF6

Linked Data

• COSMIC: COSM6321387
• MyVariant Identifiers: chr8:g.97156894G>T (hg19) ; chr8:g.96144666G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96144666G>T , CM000670.2:g.96144666G>T	GRCh38
NC_000008.10:g.97156894G>T , CM000670.1:g.97156894G>T	GRCh37
NC_000008.9:g.97226070G>T	NCBI36
NG_008981.1:g.21127C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000287020.7:c.1265C>A MANE Select	ENSP00000287020.4:p.Pro422His
ENST00000287020.6:c.1265C>A	ENSP00000287020.4:p.Pro422His
ENST00000620978.1:c.805C>A	ENSP00000480170.1:p.Pro269Thr
ENST00000621429.1:c.1014C>A	ENSP00000483711.1:p.Ala338=
NM_001001557.2:c.1265C>A	NP_001001557.1:p.Pro422His
XM_011517030.1:c.866C>A	XP_011515332.1:p.Pro289His
NM_001001557.3:c.1265C>A	NP_001001557.1:p.Pro422His
NM_001001557.4:c.1265C>A MANE Select	NP_001001557.1:p.Pro422His