Canonical Allele Identifier: CA136028309

Gene: POLR1H

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30062912C>T , CM000668.2:g.30062912C>T	GRCh38
NC_000006.11:g.30030689C>T , CM000668.1:g.30030689C>T	GRCh37
NC_000006.10:g.30138668C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332435.10:c.356+579C>T MANE Select	ENSP00000331111.5:n.356+579C>T
ENST00000332435.9:c.356+579C>T	ENSP00000331111.5:n.356+579C>T
ENST00000359374.8:c.356+579C>T	ENSP00000352333.4:n.356+579C>T
ENST00000376782.6:c.356+579C>T	ENSP00000365978.2:n.356+579C>T
ENST00000376785.2:c.356+579C>T	ENSP00000365981.2:n.356+579C>T
ENST00000463141.1:n.334+579C>T
ENST00000471008.5:n.3435+579C>T
NM_001278785.1:c.356+579C>T	NP_001265714.1:n.356+579C>T
NM_001278786.1:c.356+579C>T	NP_001265715.1:n.356+579C>T
NM_014596.5:c.356+579C>T	NP_055411.1:n.356+579C>T
NM_170783.3:c.356+579C>T	NP_740753.1:n.356+579C>T
NR_103864.1:n.424+579C>T
NM_170783.4:c.356+579C>T MANE Select	NP_740753.1:n.356+579C>T
NM_001278785.2:c.356+579C>T	NP_001265714.1:n.356+579C>T
NM_001278786.2:c.356+579C>T	NP_001265715.1:n.356+579C>T
NM_014596.6:c.356+579C>T	NP_055411.1:n.356+579C>T
NR_103864.2:n.399+579C>T