Canonical Allele Identifier: CA397796741

Gene: POLR2A

Linked Data

• MyVariant Identifiers: chr17:g.7405965G>T (hg19) ; chr17:g.7502646G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7502646G>T , CM000679.2:g.7502646G>T	GRCh38
NC_000017.10:g.7405965G>T , CM000679.1:g.7405965G>T	GRCh37
NC_000017.9:g.7346689G>T	NCBI36
NG_027747.1:g.23268G>T
NG_027747.2:g.23268G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617998.6:n.3100G>T
ENST00000674977.2:c.2701G>T	ENSP00000502190.2:p.Val901Phe
ENST00000576114.1:n.167G>T
ENST00000617998.4:c.2701G>T	ENSP00000480158.1:p.Val901Phe
ENST00000621442.4:c.2701G>T	ENSP00000483957.1:p.Val901Phe
NM_000937.4:c.2701G>T	NP_000928.1:p.Val901Phe
NM_000937.5:c.2701G>T MANE Select	NP_000928.1:p.Val901Phe