Canonical Allele Identifier: CA1138620488

Gene: TMLHE

Linked Data

• dbSNP Id: rs2067073944
• gnomAD v3: X-155505977-C-G
• gnomAD v4: X-155505977-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155505977C>G , CM000685.2:g.155505977C>G	GRCh38
NC_000023.10:g.154735638C>G , CM000685.1:g.154735638C>G	GRCh37
NC_000023.9:g.154388832C>G	NCBI36
NG_021318.1:g.111985G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334398.8:c.995+921G>C MANE Select	ENSP00000335261.3:n.995+921G>C
ENST00000675642.1:c.1028+921G>C	ENSP00000502604.1:n.1028+921G>C
ENST00000334398.7:c.995+921G>C	ENSP00000335261.3:n.995+921G>C
ENST00000369439.4:c.995+921G>C	ENSP00000358447.4:n.995+921G>C
NM_001184797.1:c.995+921G>C	NP_001171726.1:n.995+921G>C
NM_018196.3:c.995+921G>C	NP_060666.1:n.995+921G>C
XM_011531182.1:c.842+921G>C	XP_011529484.1:n.842+921G>C
XR_247318.1:n.1166+921G>C
XM_011531182.3:c.842+921G>C	XP_011529484.1:n.842+921G>C
XR_247318.3:n.1140+921G>C
NM_018196.4:c.995+921G>C MANE Select	NP_060666.1:n.995+921G>C
NM_001184797.2:c.995+921G>C	NP_001171726.1:n.995+921G>C