Canonical Allele Identifier: CA413851096

Gene: COL4A5

Linked Data

• gnomAD v4: X-108680888-T-C
• MyVariant Identifiers: chrX:g.107924118T>C (hg19) ; chrX:g.108680888T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680888T>C , CM000685.2:g.108680888T>C	GRCh38
NC_000023.10:g.107924118T>C , CM000685.1:g.107924118T>C	GRCh37
NC_000023.9:g.107810774T>C	NCBI36
NG_011977.1:g.245965T>C
NG_011977.2:g.245965T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4019T>C MANE Select	ENSP00000331902.7:p.Met1340Thr
ENST00000361603.7:c.4001T>C	ENSP00000354505.2:p.Met1334Thr
ENST00000510690.2:n.513T>C
ENST00000328300.10:c.4019T>C	ENSP00000331902.6:p.Met1340Thr
ENST00000361603.6:c.4001T>C	ENSP00000354505.2:p.Met1334Thr
ENST00000489230.1:n.422T>C
NM_000495.4:c.4001T>C	NP_000486.1:p.Met1334Thr
NM_033380.2:c.4019T>C	NP_203699.1:p.Met1340Thr
XM_005262070.2:c.4010T>C	XP_005262127.1:p.Met1337Thr
XM_006724616.2:c.4019T>C	XP_006724679.1:p.Met1340Thr
XM_011530849.1:c.3695T>C	XP_011529151.1:p.Met1232Thr
XM_011530851.1:c.1592T>C	XP_011529153.1:p.Met531Thr
XM_011530849.2:c.4034T>C	XP_011529151.2:p.Met1345Thr
XM_017029259.2:c.4025T>C	XP_016884748.1:p.Met1342Thr
XM_017029260.1:c.4016T>C	XP_016884749.1:p.Met1339Thr
XM_017029263.2:c.2354T>C	XP_016884752.1:p.Met785Thr
NM_000495.5:c.4001T>C	NP_000486.1:p.Met1334Thr
NM_033380.3:c.4019T>C MANE Select	NP_203699.1:p.Met1340Thr