Canonical Allele Identifier: CA408015347

Gene: TGM6

Linked Data

• MyVariant Identifiers: chr20:g.2398096A>T (hg19) ; chr20:g.2417450A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2417450A>T , CM000682.2:g.2417450A>T	GRCh38
NC_000020.10:g.2398096A>T , CM000682.1:g.2398096A>T	GRCh37
NC_000020.9:g.2346096A>T	NCBI36
NG_031917.1:g.41543A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000202625.7:c.1555A>T MANE Select	ENSP00000202625.2:p.Asn519Tyr
ENST00000202625.6:c.1555A>T	ENSP00000202625.2:p.Asn519Tyr
ENST00000381423.1:c.1555A>T	ENSP00000370831.1:p.Asn519Tyr
NM_001254734.1:c.1555A>T	NP_001241663.1:p.Asn519Tyr
NM_198994.2:c.1555A>T	NP_945345.2:p.Asn519Tyr
NM_001254734.2:c.1555A>T	NP_001241663.1:p.Asn519Tyr
NM_198994.3:c.1555A>T MANE Select	NP_945345.2:p.Asn519Tyr