Canonical Allele Identifier: CA11402332

Gene: CRTAP

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.33134362A>G , CM000665.2:g.33134362A>G	GRCh38
NC_000003.11:g.33175854A>G , CM000665.1:g.33175854A>G	GRCh37
NC_000003.10:g.33150858A>G	NCBI36
NG_008122.1:g.25405A>G , LRG_4:g.25405A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006371.5:c.1152+97A>G MANE Select	NP_006362.1:n.1152+97A>G
ENST00000320954.11:c.1152+97A>G MANE Select	ENSP00000323696.5:n.1152+97A>G
NM_001393363.1:c.1068+1662A>G	NP_001380292.1:n.1068+1662A>G
NM_001393364.1:c.1023+97A>G	NP_001380293.1:n.1023+97A>G
NM_001393365.1:c.1002+97A>G	NP_001380294.1:n.1002+97A>G
NM_006371.4:c.1152+97A>G , LRG_4t1:c.1152+97A>G	NP_006362.1:n.1152+97A>G
ENST00000320954.10:c.1152+97A>G	ENSP00000323696.5:n.1152+97A>G
ENST00000449224.1:c.1023+97A>G	ENSP00000409997.1:n.1023+97A>G