Canonical Allele Identifier: CA371751928

Gene: GDF6

Linked Data

• gnomAD v4: 8-96145173-T-G
• MyVariant Identifiers: chr8:g.97157401T>G (hg19) ; chr8:g.96145173T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145173T>G , CM000670.2:g.96145173T>G	GRCh38
NC_000008.10:g.97157401T>G , CM000670.1:g.97157401T>G	GRCh37
NC_000008.9:g.97226577T>G	NCBI36
NG_008981.1:g.20620A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.758A>C MANE Select	ENSP00000287020.4:p.Gln253Pro
ENST00000287020.6:c.758A>C	ENSP00000287020.4:p.Gln253Pro
ENST00000620978.1:c.707-11A>C	ENSP00000480170.1:n.707-11A>C
ENST00000621429.1:c.758A>C	ENSP00000483711.1:p.Gln253Pro
NM_001001557.2:c.758A>C	NP_001001557.1:p.Gln253Pro
XM_011517030.1:c.359A>C	XP_011515332.1:p.Gln120Pro
NM_001001557.3:c.758A>C	NP_001001557.1:p.Gln253Pro
NM_001001557.4:c.758A>C MANE Select	NP_001001557.1:p.Gln253Pro