Canonical Allele Identifier: CA2669811695

Linked Data

gnomAD v4: 4-5808103-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5808103A>C , CM000666.2:g.5808103A>C GRCh38
NC_000004.11:g.5809830A>C , CM000666.1:g.5809830A>C GRCh37
NC_000004.10:g.5860731A>C NCBI36
NG_008843.1:g.101907A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264956.11:c.2562-98A>C (EVC) MANE Select ENSP00000264956.6:n.2562-98A>C
ENST00000264956.10:c.2562-98A>C (EVC) ENSP00000264956.6:n.2562-98A>C
ENST00000506216.5:n.1647+17391T>G (CRMP1)
NM_001306090.1:c.2562-98A>C (EVC) NP_001293019.1:n.2562-98A>C
NM_153717.2:c.2562-98A>C (EVC) NP_714928.1:n.2562-98A>C
XM_006713865.2:c.2562-98A>C (EVC) XP_006713928.1:n.2562-98A>C
XM_006713866.2:c.2562-98A>C (EVC) XP_006713929.1:n.2562-98A>C
XR_427473.2:n.2752-98A>C (EVC)
XR_427475.2:n.2752-98A>C (EVC)
XR_427476.2:n.2752-98A>C (EVC)
XR_924920.1:n.2752-98A>C (EVC)
XR_924921.1:n.2752-98A>C (EVC)
XR_924922.1:n.2752-98A>C (EVC)
XR_924923.1:n.2752-98A>C (EVC)
XR_924924.1:n.2752-98A>C (EVC)
XR_924925.1:n.2752-98A>C (EVC)
XR_924926.1:n.2752-98A>C (EVC)
XR_924927.1:n.2752-98A>C (EVC)
XM_006713865.3:c.2562-98A>C (EVC) XP_006713928.1:n.2562-98A>C
XM_006713866.3:c.2562-98A>C (EVC) XP_006713929.1:n.2562-98A>C
XR_001741164.1:n.2742-98A>C (EVC)
XR_001741165.1:n.2742-98A>C (EVC)
XR_001741166.1:n.2742-98A>C (EVC)
XR_001741167.1:n.2742-98A>C (EVC)
XR_001741168.1:n.2742-98A>C (EVC)
XR_001741169.2:n.2606-98A>C (EVC)
XR_001741170.1:n.2827-98A>C (EVC)
XR_001741171.1:n.2047-98A>C (EVC)
XR_427473.3:n.2742-98A>C (EVC)
XR_427475.3:n.2742-98A>C (EVC)
XR_427476.3:n.2742-98A>C (EVC)
XR_924920.2:n.2742-98A>C (EVC)
XR_924921.2:n.2742-98A>C (EVC)
XR_924922.2:n.2742-98A>C (EVC)
XR_924924.2:n.2742-98A>C (EVC)
XR_924925.2:n.2742-98A>C (EVC)
XR_924926.2:n.2742-98A>C (EVC)
NM_153717.3:c.2562-98A>C (EVC) MANE Select NP_714928.1:n.2562-98A>C
NM_001306090.2:c.2562-98A>C (EVC) NP_001293019.1:n.2562-98A>C