Canonical Allele Identifier: CA2091099

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214966945A>C , CM000664.2:g.214966945A>C	GRCh38
NC_000002.11:g.215831669A>C , CM000664.1:g.215831669A>C	GRCh37
NC_000002.10:g.215539914A>C	NCBI36
NG_007074.1:g.176483T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_173076.3:c.5787T>G MANE Select	NP_775099.2:p.Tyr1929Ter
ENST00000272895.12:c.5787T>G MANE Select	ENSP00000272895.7:p.Tyr1929Ter
NM_015657.3:c.4833T>G	NP_056472.2:p.Tyr1611Ter
NM_015657.4:c.4833T>G	NP_056472.2:p.Tyr1611Ter
NM_173076.2:c.5787T>G	NP_775099.2:p.Tyr1929Ter
NR_103740.1:n.6087T>G
NR_103740.2:n.6285T>G
ENST00000272895.11:c.5787T>G	ENSP00000272895.7:p.Tyr1929Ter
ENST00000389661.4:c.4833T>G	ENSP00000374312.4:p.Tyr1611Ter
XM_011510951.1:c.5796T>G	XP_011509253.1:p.Tyr1932Ter
XM_011510951.2:c.5796T>G	XP_011509253.1:p.Tyr1932Ter
XM_011510952.1:c.5796T>G	XP_011509254.1:p.Tyr1932Ter