Canonical Allele Identifier: CA3134742737
Community Standard Title: NM_000288.4(PEX7):c.345T= (p.Tyr115=)
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136845620T= , CM000668.2:g.136845620T= GRCh38
NC_000006.11:g.137166758T= , CM000668.1:g.137166758T= GRCh37
NC_000006.10:g.137208451T= NCBI36
NG_008462.1:g.28041T=

Transcript Alleles

HGVS Amino-acid Change
NM_000288.4:c.345T= MANE Select NP_000279.1:p.Tyr115=
ENST00000318471.5:c.345T= MANE Select ENSP00000315680.3:p.Tyr115=
NM_000288.3:c.345T= NP_000279.1:p.Tyr115=
ENST00000318471.4:c.345T= ENSP00000315680.3:p.Tyr115=
ENST00000541292.5:c.345T= ENSP00000441004.1:p.Tyr115=
ENST00000541292.6:c.345T= ENSP00000441004.1:p.Tyr115=
ENST00000678002.1:c.214+19151T=
ENST00000678557.1:c.231T= ENSP00000502962.1:p.Tyr77=
ENST00000678593.1:c.350T= ENSP00000503841.1:n.350T=
ENST00000679286.1:c.225T= ENSP00000503168.1:p.Tyr75=
XM_005267019.3:c.231T= XP_005267076.1:p.Tyr77=
XM_005267019.4:c.231T= XP_005267076.1:p.Tyr77=
XM_006715502.1:c.339+19151T= XP_006715565.1:n.339+19151T=
XM_006715502.2:c.339+19151T= XP_006715565.1:n.339+19151T=
XM_011535900.1:c.345T= XP_011534202.1:p.Tyr115=
XM_017010934.2:c.345T= XP_016866423.1:p.Tyr115=