Canonical Allele Identifier: CA627589124

Gene: ABCA5

Linked Data

• dbSNP Id: rs1251097870
• gnomAD v2: 17-67250058-A-G
• gnomAD v4: 17-69253917-A-G
• MyVariant Identifiers: chr17:g.67250058A>G (hg19) ; chr17:g.69253917A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253917A>G , CM000679.2:g.69253917A>G	GRCh38
NC_000017.10:g.67250058A>G , CM000679.1:g.67250058A>G	GRCh37
NC_000017.9:g.64761653A>G	NCBI36
NG_034199.1:g.78266T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4245-48T>C MANE Select	ENSP00000376443.2:n.4245-48T>C
ENST00000392676.7:c.4245-48T>C	ENSP00000376443.2:n.4245-48T>C
ENST00000586811.1:c.1143-48T>C	ENSP00000465351.1:n.1143-48T>C
ENST00000586995.5:c.3307-48T>C	ENSP00000467251.1:n.3307-48T>C
ENST00000588877.5:c.4245-48T>C	ENSP00000467882.1:n.4245-48T>C
ENST00000591234.5:c.2187-48T>C	ENSP00000465766.1:n.2187-48T>C
NM_018672.4:c.4245-48T>C	NP_061142.2:n.4245-48T>C
NM_172232.3:c.4245-48T>C	NP_758424.1:n.4245-48T>C
NM_172232.4:c.4245-48T>C MANE Select	NP_758424.1:n.4245-48T>C
NM_018672.5:c.4245-48T>C	NP_061142.2:n.4245-48T>C