Canonical Allele Identifier: CA371752071

Gene: GDF6

Linked Data

• MyVariant Identifiers: chr8:g.97157473A>C (hg19) ; chr8:g.96145245A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145245A>C , CM000670.2:g.96145245A>C	GRCh38
NC_000008.10:g.97157473A>C , CM000670.1:g.97157473A>C	GRCh37
NC_000008.9:g.97226649A>C	NCBI36
NG_008981.1:g.20548T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.686T>G MANE Select	ENSP00000287020.4:p.Leu229Arg
ENST00000287020.6:c.686T>G	ENSP00000287020.4:p.Leu229Arg
ENST00000620978.1:c.686T>G	ENSP00000480170.1:p.Leu229Arg
ENST00000621429.1:c.686T>G	ENSP00000483711.1:p.Leu229Arg
NM_001001557.2:c.686T>G	NP_001001557.1:p.Leu229Arg
XM_011517030.1:c.287T>G	XP_011515332.1:p.Leu96Arg
NM_001001557.3:c.686T>G	NP_001001557.1:p.Leu229Arg
NM_001001557.4:c.686T>G MANE Select	NP_001001557.1:p.Leu229Arg