Canonical Allele Identifier: CA570743682

Gene: PEX7

Linked Data

• dbSNP Id: rs1486247695
• gnomAD v2: 6-137143667-C-T
• gnomAD v3: 6-136822529-C-T
• gnomAD v4: 6-136822529-C-T
• MyVariant Identifiers: chr6:g.137143667C>T (hg19) ; chr6:g.136822529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822529C>T , CM000668.2:g.136822529C>T	GRCh38
NC_000006.11:g.137143667C>T , CM000668.1:g.137143667C>T	GRCh37
NC_000006.10:g.137185360C>T	NCBI36
NG_008462.1:g.4950C>T

Transcript Alleles

HGVS	Amino-acid change
XM_006715502.1:c.-137C>T	XP_006715565.1:n.-137C>T
XM_011535900.1:c.-137C>T	XP_011534202.1:n.-137C>T
XM_006715502.2:c.-137C>T	XP_006715565.1:n.-137C>T
XM_017010934.2:c.-137C>T	XP_016866423.1:n.-137C>T