Canonical Allele Identifier: CA694169111

Gene: PCCA

Linked Data

• dbSNP Id: rs1262342122
• gnomAD v3: 13-100089017-C-T
• gnomAD v4: 13-100089017-C-T
• MyVariant Identifiers: chr13:g.100741271C>T (hg19) ; chr13:g.100089017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100089017C>T , CM000675.2:g.100089017C>T	GRCh38
NC_000013.10:g.100741271C>T , CM000675.1:g.100741271C>T	GRCh37
NC_000013.9:g.99539272C>T	NCBI36
NG_008768.1:g.4935C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376279.7:c.-104C>T	ENSP00000365456.3:n.-104C>T
ENST00000376286.8:c.-104C>T	ENSP00000365463.4:n.-104C>T
NM_000282.3:c.-104C>T	NP_000273.2:n.-104C>T
NM_001127692.2:c.-104C>T	NP_001121164.1:n.-104C>T
NM_001178004.1:c.-104C>T	NP_001171475.1:n.-104C>T
NM_001352605.1:c.-104C>T	NP_001339534.1:n.-104C>T
NM_001352606.1:c.-104C>T	NP_001339535.1:n.-104C>T
NM_001352607.1:c.-104C>T	NP_001339536.1:n.-104C>T
NM_001352608.1:c.-104C>T	NP_001339537.1:n.-104C>T
NM_001352609.1:c.-104C>T	NP_001339538.1:n.-104C>T
NM_001352610.1:c.-970C>T	NP_001339539.1:n.-970C>T
NM_001352611.1:c.-970C>T	NP_001339540.1:n.-970C>T
NM_001352612.1:c.-970C>T	NP_001339541.1:n.-970C>T
NR_148027.1:n.3C>T
NR_148028.1:n.3C>T
NR_148029.1:n.3C>T
NR_148030.1:n.3C>T
NR_148031.1:n.3C>T