Canonical Allele Identifier: CA365762852

Gene: PEX7

Linked Data

• dbSNP Id: rs1400131561
• gnomAD v4: 6-136866650-G-C
• MyVariant Identifiers: chr6:g.137187788G>C (hg19) ; chr6:g.136866650G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866650G>C , CM000668.2:g.136866650G>C	GRCh38
NC_000006.11:g.137187788G>C , CM000668.1:g.137187788G>C	GRCh37
NC_000006.10:g.137229481G>C	NCBI36
NG_008462.1:g.49071G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.550G>C MANE Select	ENSP00000315680.3:p.Asp184His
ENST00000541292.6:c.550G>C	ENSP00000441004.1:p.Asp184His
ENST00000678002.1:c.238G>C
ENST00000678557.1:c.436G>C	ENSP00000502962.1:p.Asp146His
ENST00000678593.1:c.555G>C	ENSP00000503841.1:n.555G>C
ENST00000679286.1:c.430G>C	ENSP00000503168.1:p.Asp144His
ENST00000318471.4:c.550G>C	ENSP00000315680.3:p.Asp184His
ENST00000541292.5:c.550G>C	ENSP00000441004.1:p.Asp184His
NM_000288.3:c.550G>C	NP_000279.1:p.Asp184His
XM_005267019.3:c.436G>C	XP_005267076.1:p.Asp146His
XM_006715502.1:c.340-3240G>C	XP_006715565.1:n.340-3240G>C
XM_011535900.1:c.526+20469G>C	XP_011534202.1:n.526+20469G>C
XM_005267019.4:c.436G>C	XP_005267076.1:p.Asp146His
XM_006715502.2:c.340-3240G>C	XP_006715565.1:n.340-3240G>C
XM_017010934.2:c.526+20469G>C	XP_016866423.1:n.526+20469G>C
NM_000288.4:c.550G>C MANE Select	NP_000279.1:p.Asp184His