Canonical Allele Identifier: CA570576448

Gene: PEX7

Linked Data

• dbSNP Id: rs577909640
• gnomAD v2: 6-137219601-G-C
• gnomAD v3: 6-136898463-G-C
• gnomAD v4: 6-136898463-G-C
• MyVariant Identifiers: chr6:g.137219601G>C (hg19) ; chr6:g.136898463G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898463G>C , CM000668.2:g.136898463G>C	GRCh38
NC_000006.11:g.137219601G>C , CM000668.1:g.137219601G>C	GRCh37
NC_000006.10:g.137261294G>C	NCBI36
NG_008462.1:g.80884G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.903+222G>C MANE Select	ENSP00000315680.3:n.903+222G>C
ENST00000541292.6:c.*168+222G>C	ENSP00000441004.1:n.*168+222G>C
ENST00000678002.1:c.591+222G>C
ENST00000678557.1:c.789+222G>C	ENSP00000502962.1:n.789+222G>C
ENST00000679286.1:c.783+222G>C	ENSP00000503168.1:n.783+222G>C
ENST00000318471.4:c.903+222G>C	ENSP00000315680.3:n.903+222G>C
NM_000288.3:c.903+222G>C	NP_000279.1:n.903+222G>C
XM_005267019.3:c.789+222G>C	XP_005267076.1:n.789+222G>C
XM_006715502.1:c.609+222G>C	XP_006715565.1:n.609+222G>C
XM_005267019.4:c.789+222G>C	XP_005267076.1:n.789+222G>C
XM_006715502.2:c.609+222G>C	XP_006715565.1:n.609+222G>C
XM_017010934.2:c.*26+222G>C	XP_016866423.1:n.*26+222G>C
NM_000288.4:c.903+222G>C MANE Select	NP_000279.1:n.903+222G>C