Canonical Allele Identifier: CA259991

Gene: TGM6

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2417445T>G , CM000682.2:g.2417445T>G	GRCh38
NC_000020.10:g.2398091T>G , CM000682.1:g.2398091T>G	GRCh37
NC_000020.9:g.2346091T>G	NCBI36
NG_031917.1:g.41538T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_198994.3:c.1550T>G MANE Select	NP_945345.2:p.Leu517Trp
ENST00000202625.7:c.1550T>G MANE Select	ENSP00000202625.2:p.Leu517Trp
NM_001254734.1:c.1550T>G	NP_001241663.1:p.Leu517Trp
NM_001254734.2:c.1550T>G	NP_001241663.1:p.Leu517Trp
NM_198994.2:c.1550T>G	NP_945345.2:p.Leu517Trp
ENST00000202625.6:c.1550T>G	ENSP00000202625.2:p.Leu517Trp
ENST00000381423.1:c.1550T>G	ENSP00000370831.1:p.Leu517Trp