Canonical Allele Identifier: CA352008555

Gene: CRTAP

Linked Data

• gnomAD v4: 3-33114369-G-T
• MyVariant Identifiers: chr3:g.33155861G>T (hg19) ; chr3:g.33114369G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33114369G>T , CM000665.2:g.33114369G>T	GRCh38
NC_000003.11:g.33155861G>T , CM000665.1:g.33155861G>T	GRCh37
NC_000003.10:g.33130865G>T	NCBI36
NG_008122.1:g.5412G>T , LRG_4:g.5412G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000320954.11:c.292G>T MANE Select	ENSP00000323696.5:p.Ala98Ser
ENST00000320954.10:c.292G>T	ENSP00000323696.5:p.Ala98Ser
ENST00000449224.1:c.292G>T	ENSP00000409997.1:p.Ala98Ser
NM_006371.4:c.292G>T , LRG_4t1:c.292G>T	NP_006362.1:p.Ala98Ser
NM_006371.5:c.292G>T MANE Select	NP_006362.1:p.Ala98Ser
NM_001393363.1:c.292G>T	NP_001380292.1:p.Ala98Ser
NM_001393364.1:c.292G>T	NP_001380293.1:p.Ala98Ser
NM_001393365.1:c.292G>T	NP_001380294.1:p.Ala98Ser