Canonical Allele Identifier: CA2450634568

Gene: COL4A5

Linked Data

• dbSNP Id: rs2064366482

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439898C>T , CM000685.2:g.108439898C>T	GRCh38
NC_000023.10:g.107683128C>T , CM000685.1:g.107683128C>T	GRCh37
NC_000023.9:g.107569784C>T	NCBI36
NG_011977.1:g.4975C>T
NG_012059.2:g.4577G>A
NG_011977.2:g.4975C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-228C>T MANE Select	ENSP00000331902.7:n.-228C>T
ENST00000328300.10:c.-228C>T	ENSP00000331902.6:n.-228C>T
ENST00000361603.6:c.-228C>T	ENSP00000354505.2:n.-228C>T
ENST00000477429.1:n.55C>T
NM_000495.4:c.-228C>T	NP_000486.1:n.-228C>T
NM_033380.2:c.-228C>T	NP_203699.1:n.-228C>T
XM_005262070.2:c.-228C>T	XP_005262127.1:n.-228C>T
XM_005262072.3:c.-228C>T	XP_005262129.1:n.-228C>T
XM_006724616.2:c.-121+103C>T	XP_006724679.1:n.-121+103C>T
XM_011530850.1:c.-228C>T	XP_011529152.1:n.-228C>T
NM_000495.5:c.-228C>T	NP_000486.1:n.-228C>T
NM_033380.3:c.-228C>T MANE Select	NP_203699.1:n.-228C>T