Canonical Allele Identifier: CA355472417

Gene: DNAJC19

Linked Data

• gnomAD v4: 3-180986952-A-G
• MyVariant Identifiers: chr3:g.180704740A>G (hg19) ; chr3:g.180986952A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180986952A>G , CM000665.2:g.180986952A>G	GRCh38
NC_000003.11:g.180704740A>G , CM000665.1:g.180704740A>G	GRCh37
NC_000003.10:g.182187434A>G	NCBI36
NG_022933.1:g.7823T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478723.6:n.271T>C
ENST00000482363.2:n.1367T>C
ENST00000485675.2:n.1361T>C
ENST00000688055.1:c.200T>C	ENSP00000508688.1:p.Leu67Pro
ENST00000382564.8:c.200T>C MANE Select	ENSP00000372005.2:p.Leu67Pro
ENST00000643241.1:c.125T>C	ENSP00000496401.1:p.Leu42Pro
ENST00000646965.1:c.-46-956T>C	ENSP00000496456.1:n.-46-956T>C
ENST00000382564.6:c.200T>C	ENSP00000372005.2:p.Leu67Pro
ENST00000469657.5:c.130-956T>C	ENSP00000418058.1:n.130-956T>C
ENST00000478723.5:n.339T>C
ENST00000479269.5:c.125T>C	ENSP00000419191.1:p.Leu42Pro
ENST00000485675.1:n.1273T>C
ENST00000486355.1:c.154+46T>C	ENSP00000419991.1:n.154+46T>C
ENST00000491873.5:c.125T>C	ENSP00000420767.1:p.Leu42Pro
NM_001190233.1:c.125T>C	NP_001177162.1:p.Leu42Pro
NM_145261.3:c.200T>C	NP_660304.1:p.Leu67Pro
NR_033721.1:n.320T>C
NR_033722.1:n.302-956T>C
NR_033723.1:n.326+46T>C
NR_046073.1:n.176-956T>C
NM_145261.4:c.200T>C MANE Select	NP_660304.1:p.Leu67Pro
NM_001190233.2:c.125T>C	NP_001177162.1:p.Leu42Pro
NR_033721.2:n.282T>C
NR_033722.2:n.264-956T>C