Canonical Allele Identifier: CA371751844

Gene: GDF6

Linked Data

• gnomAD v4: 8-96145142-C-T
• MyVariant Identifiers: chr8:g.97157370C>T (hg19) ; chr8:g.96145142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145142C>T , CM000670.2:g.96145142C>T	GRCh38
NC_000008.10:g.97157370C>T , CM000670.1:g.97157370C>T	GRCh37
NC_000008.9:g.97226546C>T	NCBI36
NG_008981.1:g.20651G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287020.7:c.789G>A MANE Select	ENSP00000287020.4:p.Leu263=
ENST00000287020.6:c.789G>A	ENSP00000287020.4:p.Leu263=
ENST00000620978.1:c.727G>A	ENSP00000480170.1:p.Gly243Arg
ENST00000621429.1:c.789G>A	ENSP00000483711.1:p.Leu263=
NM_001001557.2:c.789G>A	NP_001001557.1:p.Leu263=
XM_011517030.1:c.390G>A	XP_011515332.1:p.Leu130=
NM_001001557.3:c.789G>A	NP_001001557.1:p.Leu263=
NM_001001557.4:c.789G>A MANE Select	NP_001001557.1:p.Leu263=