Canonical Allele Identifier: CA4815422

Gene: GDF6

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145207C>T , CM000670.2:g.96145207C>T	GRCh38
NC_000008.10:g.97157435C>T , CM000670.1:g.97157435C>T	GRCh37
NC_000008.9:g.97226611C>T	NCBI36
NG_008981.1:g.20586G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001001557.4:c.724G>A MANE Select	NP_001001557.1:p.Ala242Thr
ENST00000287020.7:c.724G>A MANE Select	ENSP00000287020.4:p.Ala242Thr
NM_001001557.2:c.724G>A	NP_001001557.1:p.Ala242Thr
NM_001001557.3:c.724G>A	NP_001001557.1:p.Ala242Thr
ENST00000287020.6:c.724G>A	ENSP00000287020.4:p.Ala242Thr
ENST00000620978.1:c.706+18G>A	ENSP00000480170.1:n.706+18G>A
ENST00000621429.1:c.724G>A	ENSP00000483711.1:p.Ala242Thr
XM_011517030.1:c.325G>A	XP_011515332.1:p.Ala109Thr