Canonical Allele Identifier: CA373133203

Gene: PLAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.26925865A>G , CM000671.2:g.26925865A>G	GRCh38
NC_000009.11:g.26925863A>G , CM000671.1:g.26925863A>G	GRCh37
NC_000009.10:g.26915863A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001031689.3:c.829T>C MANE Select	NP_001026859.1:p.Cys277Arg
ENST00000397292.8:c.829T>C MANE Select	ENSP00000380460.3:p.Cys277Arg
NM_001031689.2:c.829T>C	NP_001026859.1:p.Cys277Arg
NM_001321546.1:c.829T>C	NP_001308475.1:p.Cys277Arg
NM_001321546.2:c.829T>C	NP_001308475.1:p.Cys277Arg
ENST00000397292.7:c.829T>C	ENSP00000380460.3:p.Cys277Arg
ENST00000520884.5:c.829T>C	ENSP00000429372.1:p.Cys277Arg
XM_011518071.1:c.829T>C	XP_011516373.1:p.Cys277Arg
XM_011518072.1:c.829T>C	XP_011516374.1:p.Cys277Arg
XM_011518072.3:c.829T>C	XP_011516374.1:p.Cys277Arg
XM_017015319.2:c.829T>C	XP_016870808.1:p.Cys277Arg
XR_001746420.2:n.1051T>C