Canonical Allele Identifier: CA350461527

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 1997978
• ClinVar RCV Id: RCV002792040
• MyVariant Identifiers: chr2:g.215846911C>A (hg19) ; chr2:g.214982187C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214982187C>A , CM000664.2:g.214982187C>A	GRCh38
NC_000002.11:g.215846911C>A , CM000664.1:g.215846911C>A	GRCh37
NC_000002.10:g.215555156C>A	NCBI36
NG_007074.1:g.161241G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4579G>T MANE Select	ENSP00000272895.7:p.Ala1527Ser
ENST00000272895.11:c.4579G>T	ENSP00000272895.7:p.Ala1527Ser
ENST00000389661.4:c.3625G>T	ENSP00000374312.4:p.Ala1209Ser
NM_015657.3:c.3625G>T	NP_056472.2:p.Ala1209Ser
NM_173076.2:c.4579G>T	NP_775099.2:p.Ala1527Ser
NR_103740.1:n.4879G>T
XM_011510951.1:c.4588G>T	XP_011509253.1:p.Ala1530Ser
XM_011510952.1:c.4588G>T	XP_011509254.1:p.Ala1530Ser
XM_011510951.2:c.4588G>T	XP_011509253.1:p.Ala1530Ser
NM_173076.3:c.4579G>T MANE Select	NP_775099.2:p.Ala1527Ser
NR_103740.2:n.5077G>T
NM_015657.4:c.3625G>T	NP_056472.2:p.Ala1209Ser