Canonical Allele Identifier: CA371749617

Gene: GDF6

Linked Data

• MyVariant Identifiers: chr8:g.97156897A>G (hg19) ; chr8:g.96144669A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96144669A>G , CM000670.2:g.96144669A>G	GRCh38
NC_000008.10:g.97156897A>G , CM000670.1:g.97156897A>G	GRCh37
NC_000008.9:g.97226073A>G	NCBI36
NG_008981.1:g.21124T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000287020.7:c.1262T>C MANE Select	ENSP00000287020.4:p.Val421Ala
ENST00000287020.6:c.1262T>C	ENSP00000287020.4:p.Val421Ala
ENST00000620978.1:c.802T>C	ENSP00000480170.1:p.Cys268Arg
ENST00000621429.1:c.1011T>C	ENSP00000483711.1:p.Arg337=
NM_001001557.2:c.1262T>C	NP_001001557.1:p.Val421Ala
XM_011517030.1:c.863T>C	XP_011515332.1:p.Val288Ala
NM_001001557.3:c.1262T>C	NP_001001557.1:p.Val421Ala
NM_001001557.4:c.1262T>C MANE Select	NP_001001557.1:p.Val421Ala