Canonical Allele Identifier: CA570576438

Gene: PEX7

Linked Data

• dbSNP Id: rs1435314181
• gnomAD v2: 6-137219420-T-G
• MyVariant Identifiers: chr6:g.137219420T>G (hg19) ; chr6:g.136898282T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898282T>G , CM000668.2:g.136898282T>G	GRCh38
NC_000006.11:g.137219420T>G , CM000668.1:g.137219420T>G	GRCh37
NC_000006.10:g.137261113T>G	NCBI36
NG_008462.1:g.80703T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.903+41T>G MANE Select	ENSP00000315680.3:n.903+41T>G
ENST00000541292.6:c.*168+41T>G	ENSP00000441004.1:n.*168+41T>G
ENST00000678002.1:c.591+41T>G
ENST00000678557.1:c.789+41T>G	ENSP00000502962.1:n.789+41T>G
ENST00000679286.1:c.783+41T>G	ENSP00000503168.1:n.783+41T>G
ENST00000318471.4:c.903+41T>G	ENSP00000315680.3:n.903+41T>G
NM_000288.3:c.903+41T>G	NP_000279.1:n.903+41T>G
XM_005267019.3:c.789+41T>G	XP_005267076.1:n.789+41T>G
XM_006715502.1:c.609+41T>G	XP_006715565.1:n.609+41T>G
XM_005267019.4:c.789+41T>G	XP_005267076.1:n.789+41T>G
XM_006715502.2:c.609+41T>G	XP_006715565.1:n.609+41T>G
XM_017010934.2:c.*26+41T>G	XP_016866423.1:n.*26+41T>G
NM_000288.4:c.903+41T>G MANE Select	NP_000279.1:n.903+41T>G