Canonical Allele Identifier: CA386116454

Gene: TMTC3

Linked Data

• MyVariant Identifiers: chr12:g.88582620A>C (hg19) ; chr12:g.88188843A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88188843A>C , CM000674.2:g.88188843A>C	GRCh38
NC_000012.11:g.88582620A>C , CM000674.1:g.88582620A>C	GRCh37
NC_000012.10:g.87106751A>C	NCBI36
NG_021187.1:g.51548A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266712.11:c.1433A>C MANE Select	ENSP00000266712.6:p.Asp478Ala
ENST00000266712.10:c.1433A>C	ENSP00000266712.6:p.Asp478Ala
ENST00000547034.5:c.*336A>C	ENSP00000448733.1:n.*336A>C
NM_181783.3:c.1433A>C	NP_861448.2:p.Asp478Ala
XM_005268683.3:c.287A>C	XP_005268740.1:p.Asp96Ala
XM_011537980.1:c.1214A>C	XP_011536282.1:p.Asp405Ala
XM_011537981.1:c.200A>C	XP_011536283.1:p.Asp67Ala
NM_001366574.1:c.1253A>C	NP_001353503.1:p.Asp418Ala
NM_001366579.1:c.1214A>C	NP_001353508.1:p.Asp405Ala
NM_001366580.1:c.1166A>C	NP_001353509.1:p.Asp389Ala
NM_001366583.1:c.740A>C	NP_001353512.1:p.Asp247Ala
NR_159381.1:n.1766A>C
NM_181783.4:c.1433A>C MANE Select	NP_861448.2:p.Asp478Ala