Canonical Allele Identifier: CA371751933

Gene: GDF6

Linked Data

• gnomAD v4: 8-96145176-G-A
• MyVariant Identifiers: chr8:g.97157404G>A (hg19) ; chr8:g.96145176G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145176G>A , CM000670.2:g.96145176G>A	GRCh38
NC_000008.10:g.97157404G>A , CM000670.1:g.97157404G>A	GRCh37
NC_000008.9:g.97226580G>A	NCBI36
NG_008981.1:g.20617C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000287020.7:c.755C>T MANE Select	ENSP00000287020.4:p.Pro252Leu
ENST00000287020.6:c.755C>T	ENSP00000287020.4:p.Pro252Leu
ENST00000620978.1:c.707-14C>T	ENSP00000480170.1:n.707-14C>T
ENST00000621429.1:c.755C>T	ENSP00000483711.1:p.Pro252Leu
NM_001001557.2:c.755C>T	NP_001001557.1:p.Pro252Leu
XM_011517030.1:c.356C>T	XP_011515332.1:p.Pro119Leu
NM_001001557.3:c.755C>T	NP_001001557.1:p.Pro252Leu
NM_001001557.4:c.755C>T MANE Select	NP_001001557.1:p.Pro252Leu