Canonical Allele Identifier: CA8731636

Gene: ABCA8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68932332C>T , CM000679.2:g.68932332C>T	GRCh38
NC_000017.10:g.66928473C>T , CM000679.1:g.66928473C>T	GRCh37
NC_000017.9:g.64440068C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001288985.2:c.753G>A MANE Select	NP_001275914.1:p.Met251Ile
ENST00000586539.6:c.753G>A MANE Select	ENSP00000467271.1:p.Met251Ile
NM_001288985.1:c.753G>A	NP_001275914.1:p.Met251Ile
NM_001288986.1:c.753G>A	NP_001275915.1:p.Met251Ile
NM_001288986.2:c.753G>A	NP_001275915.1:p.Met251Ile
NM_001375771.1:c.570G>A	NP_001362700.1:p.Met190Ile
NM_001375772.1:c.-611G>A	NP_001362701.1:n.-611G>A
NM_007168.3:c.753G>A	NP_009099.1:p.Met251Ile
NM_007168.4:c.753G>A	NP_009099.1:p.Met251Ile
ENST00000269080.6:c.753G>A	ENSP00000269080.1:p.Met251Ile
ENST00000428549.8:n.1052G>A
ENST00000430352.6:c.753G>A	ENSP00000402814.3:p.Met251Ile
ENST00000541225.5:n.764G>A
ENST00000585850.1:n.932G>A
ENST00000586539.5:c.753G>A	ENSP00000467271.1:p.Met251Ile
ENST00000615593.4:c.-288G>A	ENSP00000481467.1:n.-288G>A
XM_005256938.1:c.753G>A	XP_005256995.1:p.Met251Ile
XM_005256940.3:c.570G>A	XP_005256997.1:p.Met190Ile
XM_005256940.4:c.570G>A	XP_005256997.1:p.Met190Ile
XM_011524188.1:c.753G>A	XP_011522490.1:p.Met251Ile
XM_011524189.1:c.753G>A	XP_011522491.1:p.Met251Ile
XM_011524190.1:c.753G>A	XP_011522492.1:p.Met251Ile
XM_011524191.1:c.753G>A	XP_011522493.1:p.Met251Ile
XM_011524192.1:c.753G>A	XP_011522494.1:p.Met251Ile
XM_011524192.3:c.753G>A	XP_011522494.1:p.Met251Ile
XR_001752401.2:n.924G>A
XR_001752402.2:n.854G>A
XR_002957944.1:n.924G>A
XR_002957945.1:n.924G>A
XR_002957946.1:n.924G>A