Canonical Allele Identifier: CA542199197

Gene: CRTAP

Linked Data

• dbSNP Id: rs1416270960
• gnomAD v2: 3-33156057-C-T
• gnomAD v4: 3-33114565-C-T
• MyVariant Identifiers: chr3:g.33156057C>T (hg19) ; chr3:g.33114565C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33114565C>T , CM000665.2:g.33114565C>T	GRCh38
NC_000003.11:g.33156057C>T , CM000665.1:g.33156057C>T	GRCh37
NC_000003.10:g.33131061C>T	NCBI36
NG_008122.1:g.5608C>T , LRG_4:g.5608C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320954.11:c.471+17C>T MANE Select	ENSP00000323696.5:n.471+17C>T
ENST00000320954.10:c.471+17C>T	ENSP00000323696.5:n.471+17C>T
ENST00000449224.1:c.471+17C>T	ENSP00000409997.1:n.471+17C>T
NM_006371.4:c.471+17C>T , LRG_4t1:c.471+17C>T	NP_006362.1:n.471+17C>T
NM_006371.5:c.471+17C>T MANE Select	NP_006362.1:n.471+17C>T
NM_001393363.1:c.471+17C>T	NP_001380292.1:n.471+17C>T
NM_001393364.1:c.471+17C>T	NP_001380293.1:n.471+17C>T
NM_001393365.1:c.471+17C>T	NP_001380294.1:n.471+17C>T