Canonical Allele Identifier: CA517989478

Gene: COL4A5

Linked Data

• dbSNP Id: rs1308265114
• MyVariant Identifiers: chrX:g.107683409T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440179T>C , CM000685.2:g.108440179T>C	GRCh38
NC_000023.10:g.107683409T>C , CM000685.1:g.107683409T>C	GRCh37
NC_000023.9:g.107570065T>C	NCBI36
NG_011977.1:g.5256T>C
NG_012059.2:g.4296A>G
NG_011977.2:g.5256T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.54T>C MANE Select	ENSP00000331902.7:p.Ser18=
ENST00000361603.7:c.54T>C	ENSP00000354505.2:p.Ser18=
ENST00000642185.1:c.54T>C	ENSP00000495101.1:p.Ser18=
ENST00000328300.10:c.54T>C	ENSP00000331902.6:p.Ser18=
ENST00000361603.6:c.54T>C	ENSP00000354505.2:p.Ser18=
ENST00000470339.1:n.238T>C
ENST00000477429.1:n.336T>C
NM_000495.4:c.54T>C	NP_000486.1:p.Ser18=
NM_033380.2:c.54T>C	NP_203699.1:p.Ser18=
XM_005262070.2:c.54T>C	XP_005262127.1:p.Ser18=
XM_005262072.3:c.54T>C	XP_005262129.1:p.Ser18=
XM_006724616.2:c.54T>C	XP_006724679.1:p.Ser18=
XM_011530850.1:c.54T>C	XP_011529152.1:p.Ser18=
NM_000495.5:c.54T>C	NP_000486.1:p.Ser18=
NM_033380.3:c.54T>C MANE Select	NP_203699.1:p.Ser18=