Canonical Allele Identifier: CA350452012

Gene: ABCA12

Linked Data

• MyVariant Identifiers: chr2:g.215831670T>G (hg19) ; chr2:g.214966946T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214966946T>G , CM000664.2:g.214966946T>G	GRCh38
NC_000002.11:g.215831670T>G , CM000664.1:g.215831670T>G	GRCh37
NC_000002.10:g.215539915T>G	NCBI36
NG_007074.1:g.176482A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.5786A>C MANE Select	ENSP00000272895.7:p.Tyr1929Ser
ENST00000272895.11:c.5786A>C	ENSP00000272895.7:p.Tyr1929Ser
ENST00000389661.4:c.4832A>C	ENSP00000374312.4:p.Tyr1611Ser
NM_015657.3:c.4832A>C	NP_056472.2:p.Tyr1611Ser
NM_173076.2:c.5786A>C	NP_775099.2:p.Tyr1929Ser
NR_103740.1:n.6086A>C
XM_011510951.1:c.5795A>C	XP_011509253.1:p.Tyr1932Ser
XM_011510952.1:c.5795A>C	XP_011509254.1:p.Tyr1932Ser
XM_011510951.2:c.5795A>C	XP_011509253.1:p.Tyr1932Ser
NM_173076.3:c.5786A>C MANE Select	NP_775099.2:p.Tyr1929Ser
NR_103740.2:n.6284A>C
NM_015657.4:c.4832A>C	NP_056472.2:p.Tyr1611Ser