Canonical Allele Identifier: CA645264052

Gene: TMLHE

Linked Data

• dbSNP Id: rs1557332612
• gnomAD v2: X-154735611-T-G
• gnomAD v3: X-155505950-T-G
• gnomAD v4: X-155505950-T-G
• MyVariant Identifiers: chrX:g.154735611T>G (hg19) ; chrX:g.155505950T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.155505950T>G , CM000685.2:g.155505950T>G	GRCh38
NC_000023.10:g.154735611T>G , CM000685.1:g.154735611T>G	GRCh37
NC_000023.9:g.154388805T>G	NCBI36
NG_021318.1:g.112012A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334398.8:c.995+948A>C MANE Select	ENSP00000335261.3:n.995+948A>C
ENST00000675642.1:c.1028+948A>C	ENSP00000502604.1:n.1028+948A>C
ENST00000334398.7:c.995+948A>C	ENSP00000335261.3:n.995+948A>C
ENST00000369439.4:c.995+948A>C	ENSP00000358447.4:n.995+948A>C
NM_001184797.1:c.995+948A>C	NP_001171726.1:n.995+948A>C
NM_018196.3:c.995+948A>C	NP_060666.1:n.995+948A>C
XM_011531182.1:c.842+948A>C	XP_011529484.1:n.842+948A>C
XR_247318.1:n.1166+948A>C
XM_011531182.3:c.842+948A>C	XP_011529484.1:n.842+948A>C
XR_247318.3:n.1140+948A>C
NM_018196.4:c.995+948A>C MANE Select	NP_060666.1:n.995+948A>C
NM_001184797.2:c.995+948A>C	NP_001171726.1:n.995+948A>C