Canonical Allele Identifier: CA2717096

Gene: DNAJC19

Linked Data

• dbSNP Id: rs371192117
• ExAC: 3:180704683 G / A
• gnomAD v2: 3-180704683-G-A
• gnomAD v3: 3-180986895-G-A
• gnomAD v4: 3-180986895-G-A
• MyVariant Identifiers: chr3:g.180704683G>A (hg19) ; chr3:g.180986895G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180986895G>A , CM000665.2:g.180986895G>A	GRCh38
NC_000003.11:g.180704683G>A , CM000665.1:g.180704683G>A	GRCh37
NC_000003.10:g.182187377G>A	NCBI36
NG_022933.1:g.7880C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478723.6:n.280+48C>T
ENST00000482363.2:n.1424C>T
ENST00000485675.2:n.1418C>T
ENST00000688055.1:c.209+48C>T	ENSP00000508688.1:n.209+48C>T
ENST00000382564.8:c.209+48C>T MANE Select	ENSP00000372005.2:n.209+48C>T
ENST00000643241.1:c.129+53C>T	ENSP00000496401.1:n.129+53C>T
ENST00000646965.1:c.-46-899C>T	ENSP00000496456.1:n.-46-899C>T
ENST00000382564.6:c.209+48C>T	ENSP00000372005.2:n.209+48C>T
ENST00000469657.5:c.130-899C>T	ENSP00000418058.1:n.130-899C>T
ENST00000478723.5:n.348+48C>T
ENST00000479269.5:c.134+48C>T	ENSP00000419191.1:n.134+48C>T
ENST00000485675.1:n.1330C>T
ENST00000486355.1:c.154+103C>T	ENSP00000419991.1:n.154+103C>T
ENST00000491873.5:c.134+48C>T	ENSP00000420767.1:n.134+48C>T
NM_001190233.1:c.134+48C>T	NP_001177162.1:n.134+48C>T
NM_145261.3:c.209+48C>T	NP_660304.1:n.209+48C>T
NR_033721.1:n.329+48C>T
NR_033722.1:n.302-899C>T
NR_033723.1:n.326+103C>T
NR_046073.1:n.176-899C>T
NM_145261.4:c.209+48C>T MANE Select	NP_660304.1:n.209+48C>T
NM_001190233.2:c.134+48C>T	NP_001177162.1:n.134+48C>T
NR_033721.2:n.291+48C>T
NR_033722.2:n.264-899C>T