Canonical Allele Identifier: CA371751960

Gene: GDF6

Linked Data

• MyVariant Identifiers: chr8:g.97157420C>G (hg19) ; chr8:g.96145192C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145192C>G , CM000670.2:g.96145192C>G	GRCh38
NC_000008.10:g.97157420C>G , CM000670.1:g.97157420C>G	GRCh37
NC_000008.9:g.97226596C>G	NCBI36
NG_008981.1:g.20601G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.739G>C MANE Select	ENSP00000287020.4:p.Ala247Pro
ENST00000287020.6:c.739G>C	ENSP00000287020.4:p.Ala247Pro
ENST00000620978.1:c.707-30G>C	ENSP00000480170.1:n.707-30G>C
ENST00000621429.1:c.739G>C	ENSP00000483711.1:p.Ala247Pro
NM_001001557.2:c.739G>C	NP_001001557.1:p.Ala247Pro
XM_011517030.1:c.340G>C	XP_011515332.1:p.Ala114Pro
NM_001001557.3:c.739G>C	NP_001001557.1:p.Ala247Pro
NM_001001557.4:c.739G>C MANE Select	NP_001001557.1:p.Ala247Pro