Canonical Allele Identifier: CA278721313

Gene: TMC7

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.19017227T>C , CM000678.2:g.19017227T>C	GRCh38
NC_000016.9:g.19028549T>C , CM000678.1:g.19028549T>C	GRCh37
NC_000016.8:g.18936050T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304381.10:c.460+629T>C MANE Select	ENSP00000304710.5:n.460+629T>C
ENST00000304381.9:c.460+629T>C	ENSP00000304710.5:n.460+629T>C
ENST00000421369.3:c.130+629T>C	ENSP00000397081.3:n.130+629T>C
ENST00000568469.5:n.501+629T>C
ENST00000569532.5:c.460+629T>C	ENSP00000455041.1:n.460+629T>C
NM_001160364.2:c.130+629T>C	NP_001153836.1:n.130+629T>C
NM_001300732.1:c.460+629T>C	NP_001287661.1:n.460+629T>C
NM_024847.4:c.460+629T>C MANE Select	NP_079123.3:n.460+629T>C
XM_011545959.1:c.130+629T>C	XP_011544261.1:n.130+629T>C
NM_001324263.1:c.-554+629T>C	NP_001311192.1:n.-554+629T>C
NM_001324265.1:c.460+629T>C	NP_001311194.1:n.460+629T>C
NM_001324268.1:c.-419+629T>C	NP_001311197.1:n.-419+629T>C
NR_136733.1:n.590+629T>C
NM_001300732.2:c.460+629T>C	NP_001287661.1:n.460+629T>C