Canonical Allele Identifier: CA10631741

Gene: GDF6

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.96145161G>A , CM000670.2:g.96145161G>A	GRCh38
NC_000008.10:g.97157389G>A , CM000670.1:g.97157389G>A	GRCh37
NC_000008.9:g.97226565G>A	NCBI36
NG_008981.1:g.20632C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001001557.4:c.770C>T MANE Select	NP_001001557.1:p.Pro257Leu
ENST00000287020.7:c.770C>T MANE Select	ENSP00000287020.4:p.Pro257Leu
NM_001001557.2:c.770C>T	NP_001001557.1:p.Pro257Leu
NM_001001557.3:c.770C>T	NP_001001557.1:p.Pro257Leu
ENST00000287020.6:c.770C>T	ENSP00000287020.4:p.Pro257Leu
ENST00000620978.1:c.708C>T	ENSP00000480170.1:p.Ala236=
ENST00000621429.1:c.770C>T	ENSP00000483711.1:p.Pro257Leu
XM_011517030.1:c.371C>T	XP_011515332.1:p.Pro124Leu