Canonical Allele Identifier: CA392100037

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43545125T>A (hg19) ; chr15:g.43252927T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252927T>A , CM000677.2:g.43252927T>A	GRCh38
NC_000015.9:g.43545125T>A , CM000677.1:g.43545125T>A	GRCh37
NC_000015.8:g.41332417T>A	NCBI36
NG_016124.1:g.18931A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.694A>T MANE Select	ENSP00000220420.5:p.Asn232Tyr
ENST00000635871.1:n.163A>T
ENST00000220420.9:c.694A>T	ENSP00000220420.5:p.Asn232Tyr
ENST00000349114.8:c.448A>T	ENSP00000220419.8:p.Asn150Tyr
ENST00000610827.4:c.691A>T	ENSP00000479732.1:p.Asn231Tyr
ENST00000611276.4:c.445A>T	ENSP00000482542.1:p.Asn149Tyr
ENST00000622115.1:c.697A>T	ENSP00000479638.1:p.Asn233Tyr
NM_004245.3:c.448A>T	NP_004236.1:p.Asn150Tyr
NM_201631.3:c.694A>T	NP_963925.2:p.Asn232Tyr
XM_011522229.1:c.694A>T	XP_011520531.1:p.Asn232Tyr
XR_931948.1:n.868A>T
NM_004245.4:c.448A>T	NP_004236.1:p.Asn150Tyr
NM_201631.4:c.694A>T MANE Select	NP_963925.2:p.Asn232Tyr