Canonical Allele Identifier: CA2623554648

Gene: PCCA

Linked Data

• gnomAD v4: 13-100089021-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100089021G>A , CM000675.2:g.100089021G>A	GRCh38
NC_000013.10:g.100741275G>A , CM000675.1:g.100741275G>A	GRCh37
NC_000013.9:g.99539276G>A	NCBI36
NG_008768.1:g.4939G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376279.7:c.-100G>A	ENSP00000365456.3:n.-100G>A
ENST00000376286.8:c.-100G>A	ENSP00000365463.4:n.-100G>A
NM_000282.3:c.-100G>A	NP_000273.2:n.-100G>A
NM_001127692.2:c.-100G>A	NP_001121164.1:n.-100G>A
NM_001178004.1:c.-100G>A	NP_001171475.1:n.-100G>A
XM_005254059.2:c.-100G>A	XP_005254116.1:n.-100G>A
XM_011521093.1:c.-100G>A	XP_011519395.1:n.-100G>A
XR_931615.1:n.2G>A
XR_931616.1:n.2G>A
NM_001352605.1:c.-100G>A	NP_001339534.1:n.-100G>A
NM_001352606.1:c.-100G>A	NP_001339535.1:n.-100G>A
NM_001352607.1:c.-100G>A	NP_001339536.1:n.-100G>A
NM_001352608.1:c.-100G>A	NP_001339537.1:n.-100G>A
NM_001352609.1:c.-100G>A	NP_001339538.1:n.-100G>A
NM_001352610.1:c.-966G>A	NP_001339539.1:n.-966G>A
NM_001352611.1:c.-966G>A	NP_001339540.1:n.-966G>A
NM_001352612.1:c.-966G>A	NP_001339541.1:n.-966G>A
NR_148027.1:n.7G>A
NR_148028.1:n.7G>A
NR_148029.1:n.7G>A
NR_148030.1:n.7G>A
NR_148031.1:n.7G>A
XM_017020605.1:c.-100G>A	XP_016876094.1:n.-100G>A
XM_017020611.1:c.-100G>A	XP_016876100.1:n.-100G>A
XM_017020612.1:c.-100G>A	XP_016876101.1:n.-100G>A
XM_017020613.1:c.-100G>A	XP_016876102.1:n.-100G>A
XM_017020615.1:c.-100G>A	XP_016876104.1:n.-100G>A
XM_017020616.1:c.-100G>A	XP_016876105.1:n.-100G>A
XR_001749567.1:n.2G>A
XR_001749568.1:n.2G>A
XR_001749569.1:n.2G>A
XR_001749576.1:n.2G>A
XR_001749577.1:n.2G>A