Canonical Allele Identifier: CA341277717

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94522188T>G (hg19) ; chr1:g.94056632T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056632T>G , CM000663.2:g.94056632T>G	GRCh38
NC_000001.10:g.94522188T>G , CM000663.1:g.94522188T>G	GRCh37
NC_000001.9:g.94294776T>G	NCBI36
NG_009073.1:g.69518A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2351A>C MANE Select	ENSP00000359245.3:p.Asp784Ala
ENST00000649773.1:c.2161-1317A>C	ENSP00000496882.1:n.2161-1317A>C
ENST00000370225.3:c.2351A>C	ENSP00000359245.3:p.Asp784Ala
ENST00000536513.5:c.-65+6542A>C	ENSP00000439707.2:n.-65+6542A>C
NM_000350.2:c.2351A>C	NP_000341.2:p.Asp784Ala
NM_000350.3:c.2351A>C MANE Select	NP_000341.2:p.Asp784Ala