Canonical Allele Identifier: CA1327155416
Community Standard Title: NM_173076.3(ABCA12):c.5787T= (p.Tyr1929=)
Gene: ABCA12 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_173076.3:c.5787T= MANE Select NP_775099.2:p.Tyr1929=
ENST00000272895.12:c.5787T= MANE Select ENSP00000272895.7:p.Tyr1929=
NM_015657.3:c.4833T= NP_056472.2:p.Tyr1611=
NM_015657.4:c.4833T= NP_056472.2:p.Tyr1611=
NM_173076.2:c.5787T= NP_775099.2:p.Tyr1929=
NR_103740.1:n.6087T=
NR_103740.2:n.6285T=
ENST00000272895.11:c.5787T= ENSP00000272895.7:p.Tyr1929=
ENST00000389661.4:c.4833T= ENSP00000374312.4:p.Tyr1611=
XM_011510951.1:c.5796T= XP_011509253.1:p.Tyr1932=
XM_011510951.2:c.5796T= XP_011509253.1:p.Tyr1932=
XM_011510952.1:c.5796T= XP_011509254.1:p.Tyr1932=