Canonical Allele Identifier: CA5014237

Gene: PLAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.26907933G>A , CM000671.2:g.26907933G>A	GRCh38
NC_000009.11:g.26907931G>A , CM000671.1:g.26907931G>A	GRCh37
NC_000009.10:g.26897931G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001031689.3:c.1723C>T MANE Select	NP_001026859.1:p.Leu575Phe
ENST00000397292.8:c.1723C>T MANE Select	ENSP00000380460.3:p.Leu575Phe
NM_001031689.2:c.1723C>T	NP_001026859.1:p.Leu575Phe
NM_001321546.1:c.1654C>T	NP_001308475.1:p.Leu552Phe
NM_001321546.2:c.1654C>T	NP_001308475.1:p.Leu552Phe
ENST00000397292.7:c.1723C>T	ENSP00000380460.3:p.Leu575Phe
ENST00000487173.5:c.302C>T
ENST00000517642.5:c.675-1857C>T
ENST00000520884.5:c.1723C>T	ENSP00000429372.1:p.Leu575Phe
XM_011518071.1:c.1654C>T	XP_011516373.1:p.Leu552Phe
XR_001746420.2:n.2028C>T