Canonical Allele Identifier: CA413848939

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107911668T>C (hg19) ; chrX:g.108668438T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108668438T>C , CM000685.2:g.108668438T>C	GRCh38
NC_000023.10:g.107911668T>C , CM000685.1:g.107911668T>C	GRCh37
NC_000023.9:g.107798324T>C	NCBI36
NG_011977.1:g.233515T>C
NG_011977.2:g.233515T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3724T>C MANE Select	ENSP00000331902.7:p.Ser1242Pro
ENST00000361603.7:c.3724T>C	ENSP00000354505.2:p.Ser1242Pro
ENST00000328300.10:c.3724T>C	ENSP00000331902.6:p.Ser1242Pro
ENST00000361603.6:c.3724T>C	ENSP00000354505.2:p.Ser1242Pro
NM_000495.4:c.3724T>C	NP_000486.1:p.Ser1242Pro
NM_033380.2:c.3724T>C	NP_203699.1:p.Ser1242Pro
XM_005262070.2:c.3724T>C	XP_005262127.1:p.Ser1242Pro
XM_006724616.2:c.3724T>C	XP_006724679.1:p.Ser1242Pro
XM_011530849.1:c.3400T>C	XP_011529151.1:p.Ser1134Pro
XM_011530850.1:c.3724T>C	XP_011529152.1:p.Ser1242Pro
XM_011530851.1:c.1297T>C	XP_011529153.1:p.Ser433Pro
XM_011530849.2:c.3739T>C	XP_011529151.2:p.Ser1247Pro
XM_017029259.2:c.3739T>C	XP_016884748.1:p.Ser1247Pro
XM_017029260.1:c.3739T>C	XP_016884749.1:p.Ser1247Pro
XM_017029261.1:c.3739T>C	XP_016884750.1:p.Ser1247Pro
XM_017029262.2:c.3739T>C	XP_016884751.1:p.Ser1247Pro
XM_017029263.2:c.2059T>C	XP_016884752.1:p.Ser687Pro
NM_000495.5:c.3724T>C	NP_000486.1:p.Ser1242Pro
NM_033380.3:c.3724T>C MANE Select	NP_203699.1:p.Ser1242Pro