Canonical Allele Identifier: CA408008323

Gene: TGM6

Linked Data

• ClinVar Variation Id: 523569
• ClinVar RCV Id: RCV000627014 ; RCV001197190
• dbSNP Id: rs766248910
• MyVariant Identifiers: chr20:g.2375166C>T (hg19) ; chr20:g.2394520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2394520C>T , CM000682.2:g.2394520C>T	GRCh38
NC_000020.10:g.2375166C>T , CM000682.1:g.2375166C>T	GRCh37
NC_000020.9:g.2323166C>T	NCBI36
NG_031917.1:g.18613C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000202625.7:c.76C>T MANE Select	ENSP00000202625.2:p.Pro26Ser
ENST00000202625.6:c.76C>T	ENSP00000202625.2:p.Pro26Ser
ENST00000381423.1:c.76C>T	ENSP00000370831.1:p.Pro26Ser
ENST00000477505.1:n.69C>T
NM_001254734.1:c.76C>T	NP_001241663.1:p.Pro26Ser
NM_198994.2:c.76C>T	NP_945345.2:p.Pro26Ser
NM_001254734.2:c.76C>T	NP_001241663.1:p.Pro26Ser
NM_198994.3:c.76C>T MANE Select	NP_945345.2:p.Pro26Ser