Canonical Allele Identifier: CA433063591

Gene: CRTAP

Linked Data

• ClinVar Variation Id: 2889004
• ClinVar RCV Id: RCV003611418
• gnomAD v4: 3-33114368-C-T
• MyVariant Identifiers: chr3:g.33155860C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33114368C>T , CM000665.2:g.33114368C>T	GRCh38
NC_000003.11:g.33155860C>T , CM000665.1:g.33155860C>T	GRCh37
NC_000003.10:g.33130864C>T	NCBI36
NG_008122.1:g.5411C>T , LRG_4:g.5411C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320954.11:c.291C>T MANE Select	ENSP00000323696.5:p.Ala97=
ENST00000320954.10:c.291C>T	ENSP00000323696.5:p.Ala97=
ENST00000449224.1:c.291C>T	ENSP00000409997.1:p.Ala97=
NM_006371.4:c.291C>T , LRG_4t1:c.291C>T	NP_006362.1:p.Ala97=
NM_006371.5:c.291C>T MANE Select	NP_006362.1:p.Ala97=
NM_001393363.1:c.291C>T	NP_001380292.1:p.Ala97=
NM_001393364.1:c.291C>T	NP_001380293.1:p.Ala97=
NM_001393365.1:c.291C>T	NP_001380294.1:p.Ala97=