Canonical Allele Identifier: CA14731260

Gene: TSHZ3

Linked Data

• dbSNP Id: rs1078373
• gnomAD v2: 19-31801130-G-A
• gnomAD v3: 19-31310224-G-A
• gnomAD v4: 19-31310224-G-A
• MyVariant Identifiers: chr19:g.31801130G>A (hg19) ; chr19:g.31310224G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.31310224G>A , CM000681.2:g.31310224G>A	GRCh38
NC_000019.9:g.31801130G>A , CM000681.1:g.31801130G>A	GRCh37
NC_000019.8:g.36492970G>A	NCBI36
NG_051203.1:g.44302C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000240587.5:c.41-30472C>T MANE Select	ENSP00000240587.4:n.41-30472C>T
ENST00000651361.1:n.63+38956C>T
ENST00000240587.4:c.41-30472C>T	ENSP00000240587.4:n.41-30472C>T
ENST00000558569.1:c.41-1515C>T	ENSP00000475613.1:n.41-1515C>T
NM_020856.2:c.41-30472C>T	NP_065907.2:n.41-30472C>T
NM_020856.3:c.41-30472C>T	NP_065907.2:n.41-30472C>T
NR_138034.1:n.347-1515C>T
NR_138035.1:n.346+38956C>T
NR_138036.1:n.346+38956C>T
NM_020856.4:c.41-30472C>T MANE Select	NP_065907.2:n.41-30472C>T
NR_138034.2:n.258-1515C>T
NR_138035.2:n.257+38956C>T
NR_138036.2:n.257+38956C>T